Canonical Allele Identifier: CA174370
Gene: ATG13 HGNC NCBI

Linked Data

ClinVar Variation Id: 161571
ClinVar RCV Id: RCV000149106
dbSNP Id: rs193920809
COSMIC: COSM1179346 COSM1179347
MyVariant Identifiers: chr11:g.46693804G>C (hg19) chr11:g.46672254G>C (hg38)
PubMed: PMID:23265383
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46672254G>C , CM000673.2:g.46672254G>C GRCh38
NC_000011.9:g.46693804G>C , CM000673.1:g.46693804G>C GRCh37
NC_000011.8:g.46650380G>C NCBI36
NG_051811.1:g.59979G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000683050.1:c.1576-1G>C MANE Select ENSP00000507809.1:n.1576-1G>C
ENST00000359513.8:c.1477-1G>C ENSP00000352500.4:n.1477-1G>C
ENST00000524625.5:c.1366-1G>C ENSP00000433543.1:n.1366-1G>C
ENST00000526508.5:c.1477-1G>C ENSP00000431974.1:n.1477-1G>C
ENST00000528494.5:c.1576-1G>C ENSP00000432412.1:n.1576-1G>C
ENST00000529655.5:c.1366-1G>C ENSP00000433756.1:n.1366-1G>C
ENST00000530500.5:c.1129-1G>C ENSP00000434390.1:n.1129-1G>C
ENST00000531933.1:c.65-1G>C
NM_001142673.2:c.1477-1G>C NP_001136145.1:n.1477-1G>C
NM_001205119.1:c.1576-1G>C NP_001192048.1:n.1576-1G>C
NM_001205120.1:c.1477-1G>C NP_001192049.1:n.1477-1G>C
NM_001205121.1:c.1366-1G>C NP_001192050.1:n.1366-1G>C
NM_001205122.1:c.1129-1G>C NP_001192051.1:n.1129-1G>C
NM_014741.4:c.1366-1G>C NP_055556.2:n.1366-1G>C
XM_005253262.2:c.1576-1G>C XP_005253319.1:n.1576-1G>C
XM_005253263.2:c.1576-1G>C XP_005253320.1:n.1576-1G>C
XM_005253265.2:c.1576-1G>C XP_005253322.1:n.1576-1G>C
XM_005253266.2:c.1576-1G>C XP_005253323.1:n.1576-1G>C
XM_005253268.2:c.1576-1G>C XP_005253325.1:n.1576-1G>C
XM_006718394.1:c.1576-1G>C XP_006718457.1:n.1576-1G>C
XM_006718395.2:c.1576-1G>C XP_006718458.1:n.1576-1G>C
XM_006718396.2:c.1576-1G>C XP_006718459.1:n.1576-1G>C
XM_011520493.1:c.1576-1G>C XP_011518795.1:n.1576-1G>C
XM_011520494.1:c.1576-1G>C XP_011518796.1:n.1576-1G>C
XM_011520495.1:c.1576-1G>C XP_011518797.1:n.1576-1G>C
XM_011520496.1:c.1576-1G>C XP_011518798.1:n.1576-1G>C
XM_011520497.1:c.1576-1G>C XP_011518799.1:n.1576-1G>C
XM_011520498.1:c.1576-1G>C XP_011518800.1:n.1576-1G>C
XM_011520499.1:c.1576-1G>C XP_011518801.1:n.1576-1G>C
XM_011520500.1:c.1549-1G>C XP_011518802.1:n.1549-1G>C
XM_011520501.1:c.1477-1G>C XP_011518803.1:n.1477-1G>C
XM_011520502.1:c.1450-1G>C XP_011518804.1:n.1450-1G>C
XM_011520503.1:c.1366-1G>C XP_011518805.1:n.1366-1G>C
NM_001346311.1:c.1576-1G>C NP_001333240.1:n.1576-1G>C
NM_001346312.1:c.1576-1G>C NP_001333241.1:n.1576-1G>C
NM_001346313.1:c.1576-1G>C NP_001333242.1:n.1576-1G>C
NM_001346314.1:c.1576-1G>C NP_001333243.1:n.1576-1G>C
NM_001346315.1:c.1576-1G>C NP_001333244.1:n.1576-1G>C
NM_001346316.1:c.1576-1G>C NP_001333245.1:n.1576-1G>C
NM_001346317.1:c.1549-1G>C NP_001333246.1:n.1549-1G>C
NM_001346318.1:c.1549-1G>C NP_001333247.1:n.1549-1G>C
NM_001346319.1:c.1477-1G>C NP_001333248.1:n.1477-1G>C
NM_001346320.1:c.1477-1G>C NP_001333249.1:n.1477-1G>C
NM_001346321.1:c.1477-1G>C NP_001333250.1:n.1477-1G>C
NM_001346322.1:c.1477-1G>C NP_001333251.1:n.1477-1G>C
NM_001346323.1:c.1477-1G>C NP_001333252.1:n.1477-1G>C
NM_001346324.1:c.1477-1G>C NP_001333253.1:n.1477-1G>C
NM_001346325.1:c.1477-1G>C NP_001333254.1:n.1477-1G>C
NM_001346326.1:c.1477-1G>C NP_001333255.1:n.1477-1G>C
NM_001346327.1:c.1477-1G>C NP_001333256.1:n.1477-1G>C
NM_001346328.1:c.1477-1G>C NP_001333257.1:n.1477-1G>C
NM_001346329.1:c.1477-1G>C NP_001333258.1:n.1477-1G>C
NM_001346330.1:c.1477-1G>C NP_001333259.1:n.1477-1G>C
NM_001346331.1:c.1477-1G>C NP_001333260.1:n.1477-1G>C
NM_001346332.1:c.1477-1G>C NP_001333261.1:n.1477-1G>C
NM_001346333.1:c.1450-1G>C NP_001333262.1:n.1450-1G>C
NM_001346334.1:c.1450-1G>C NP_001333263.1:n.1450-1G>C
NM_001346335.1:c.1450-1G>C NP_001333264.1:n.1450-1G>C
NM_001346336.1:c.1450-1G>C NP_001333265.1:n.1450-1G>C
NM_001346337.1:c.1450-1G>C NP_001333266.1:n.1450-1G>C
NM_001346338.1:c.1435-1G>C NP_001333267.1:n.1435-1G>C
NM_001346340.1:c.1435-1G>C NP_001333269.1:n.1435-1G>C
NM_001346342.1:c.1366-1G>C NP_001333271.1:n.1366-1G>C
NM_001346344.1:c.1366-1G>C NP_001333273.1:n.1366-1G>C
NM_001346346.1:c.1366-1G>C NP_001333275.1:n.1366-1G>C
NM_001346348.1:c.1366-1G>C NP_001333277.1:n.1366-1G>C
NM_001346349.1:c.1366-1G>C NP_001333278.1:n.1366-1G>C
NM_001346350.1:c.1366-1G>C NP_001333279.1:n.1366-1G>C
NM_001346351.1:c.1366-1G>C NP_001333280.1:n.1366-1G>C
NM_001346352.1:c.1366-1G>C NP_001333281.1:n.1366-1G>C
NM_001346353.1:c.1366-1G>C NP_001333282.1:n.1366-1G>C
NM_001346354.1:c.1366-1G>C NP_001333283.1:n.1366-1G>C
NM_001346355.1:c.1324-1G>C NP_001333284.1:n.1324-1G>C
NM_001346356.1:c.1324-1G>C NP_001333285.1:n.1324-1G>C
NM_001346357.1:c.892-1G>C NP_001333286.1:n.892-1G>C
NM_001346358.1:c.892-1G>C NP_001333287.1:n.892-1G>C
NM_001346359.1:c.892-1G>C NP_001333288.1:n.892-1G>C
NM_001346360.1:c.781-1G>C NP_001333289.1:n.781-1G>C
NR_144422.1:n.2275-1G>C
NR_144423.1:n.2347-1G>C
NR_144424.1:n.2046-1G>C
XM_005253265.3:c.1576-1G>C XP_005253322.1:n.1576-1G>C
XM_005253266.3:c.1576-1G>C XP_005253323.1:n.1576-1G>C
XM_006718396.3:c.1576-1G>C XP_006718459.1:n.1576-1G>C
XM_011520493.2:c.1576-1G>C XP_011518795.1:n.1576-1G>C
XM_011520496.3:c.1576-1G>C XP_011518798.1:n.1576-1G>C
XM_011520499.3:c.1576-1G>C XP_011518801.1:n.1576-1G>C
XM_011520500.2:c.1549-1G>C XP_011518802.1:n.1549-1G>C
XM_011520502.2:c.1450-1G>C XP_011518804.1:n.1450-1G>C
XM_017018599.2:c.1576-1G>C XP_016874088.1:n.1576-1G>C
XM_017018603.2:c.1477-1G>C XP_016874092.1:n.1477-1G>C
XM_017018607.1:c.1477-1G>C XP_016874096.1:n.1477-1G>C
XM_017018618.2:c.991-1G>C XP_016874107.1:n.991-1G>C
XM_024448781.1:c.781-1G>C XP_024304549.1:n.781-1G>C
NM_001142673.3:c.1477-1G>C NP_001136145.1:n.1477-1G>C
NM_001205119.2:c.1576-1G>C NP_001192048.1:n.1576-1G>C
NM_001205120.2:c.1477-1G>C NP_001192049.1:n.1477-1G>C
NM_001205121.2:c.1366-1G>C NP_001192050.1:n.1366-1G>C
NM_001205122.2:c.1129-1G>C NP_001192051.1:n.1129-1G>C
NM_001346311.2:c.1576-1G>C MANE Select NP_001333240.1:n.1576-1G>C
NM_001346312.2:c.1576-1G>C NP_001333241.1:n.1576-1G>C
NM_001346313.2:c.1576-1G>C NP_001333242.1:n.1576-1G>C
NM_001346314.2:c.1576-1G>C NP_001333243.1:n.1576-1G>C
NM_001346315.2:c.1576-1G>C NP_001333244.1:n.1576-1G>C
NM_001346316.2:c.1576-1G>C NP_001333245.1:n.1576-1G>C
NM_001346317.2:c.1549-1G>C NP_001333246.1:n.1549-1G>C
NM_001346318.2:c.1549-1G>C NP_001333247.1:n.1549-1G>C
NM_001346319.2:c.1477-1G>C NP_001333248.1:n.1477-1G>C
NM_001346320.2:c.1477-1G>C NP_001333249.1:n.1477-1G>C
NM_001346321.2:c.1477-1G>C NP_001333250.1:n.1477-1G>C
NM_001346322.2:c.1477-1G>C NP_001333251.1:n.1477-1G>C
NM_001346323.2:c.1477-1G>C NP_001333252.1:n.1477-1G>C
NM_001346324.2:c.1477-1G>C NP_001333253.1:n.1477-1G>C
NM_001346325.2:c.1477-1G>C NP_001333254.1:n.1477-1G>C
NM_001346326.2:c.1477-1G>C NP_001333255.1:n.1477-1G>C
NM_001346327.2:c.1477-1G>C NP_001333256.1:n.1477-1G>C
NM_001346328.2:c.1477-1G>C NP_001333257.1:n.1477-1G>C
NM_001346329.2:c.1477-1G>C NP_001333258.1:n.1477-1G>C
NM_001346330.2:c.1477-1G>C NP_001333259.1:n.1477-1G>C
NM_001346331.2:c.1477-1G>C NP_001333260.1:n.1477-1G>C
NM_001346332.2:c.1477-1G>C NP_001333261.1:n.1477-1G>C
NM_001346333.2:c.1450-1G>C NP_001333262.1:n.1450-1G>C
NM_001346334.2:c.1450-1G>C NP_001333263.1:n.1450-1G>C
NM_001346335.2:c.1450-1G>C NP_001333264.1:n.1450-1G>C
NM_001346336.2:c.1450-1G>C NP_001333265.1:n.1450-1G>C
NM_001346337.2:c.1450-1G>C NP_001333266.1:n.1450-1G>C
NM_001346338.2:c.1435-1G>C NP_001333267.1:n.1435-1G>C
NM_001346340.2:c.1435-1G>C NP_001333269.1:n.1435-1G>C
NM_001346342.2:c.1366-1G>C NP_001333271.1:n.1366-1G>C
NM_001346344.2:c.1366-1G>C NP_001333273.1:n.1366-1G>C
NM_001346346.2:c.1366-1G>C NP_001333275.1:n.1366-1G>C
NM_001346348.2:c.1366-1G>C NP_001333277.1:n.1366-1G>C
NM_001346349.2:c.1366-1G>C NP_001333278.1:n.1366-1G>C
NM_001346350.2:c.1366-1G>C NP_001333279.1:n.1366-1G>C
NM_001346351.2:c.1366-1G>C NP_001333280.1:n.1366-1G>C
NM_001346352.2:c.1366-1G>C NP_001333281.1:n.1366-1G>C
NM_001346353.2:c.1366-1G>C NP_001333282.1:n.1366-1G>C
NM_001346354.2:c.1366-1G>C NP_001333283.1:n.1366-1G>C
NM_001346355.2:c.1324-1G>C NP_001333284.1:n.1324-1G>C
NM_001346356.2:c.1324-1G>C NP_001333285.1:n.1324-1G>C
NM_001346357.2:c.892-1G>C NP_001333286.1:n.892-1G>C
NM_001346358.2:c.892-1G>C NP_001333287.1:n.892-1G>C
NM_001346359.2:c.892-1G>C NP_001333288.1:n.892-1G>C
NM_001346360.2:c.781-1G>C NP_001333289.1:n.781-1G>C
NM_014741.5:c.1366-1G>C NP_055556.2:n.1366-1G>C
NR_144422.2:n.1998-1G>C
NR_144423.2:n.2070-1G>C
NR_144424.2:n.1769-1G>C
Search 100 bp 5'
Search 100 bp 3'