Canonical Allele Identifier: CA008704

Gene: APC

Linked Data

• ClinVar Variation Id: 188239
• ClinVar RCV Id: RCV003650442
• dbSNP Id: rs786204169
• MyVariant Identifiers: chr5:g.112175121T>G (hg19) ; chr5:g.112839424T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839424T>G , CM000667.2:g.112839424T>G	GRCh38
NC_000005.9:g.112175121T>G , CM000667.1:g.112175121T>G	GRCh37
NC_000005.8:g.112203020T>G	NCBI36
NG_008481.4:g.151904T>G , LRG_130:g.151904T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3495T>G	ENSP00000484935.2:n.3495T>G
ENST00000504915.3:c.3884T>G	ENSP00000473355.2:p.Leu1295Ter
ENST00000505350.2:c.*3836T>G	ENSP00000481752.1:n.*3836T>G
ENST00000507379.6:c.3776T>G	ENSP00000423224.2:p.Leu1259Ter
ENST00000509732.6:c.3830T>G	ENSP00000426541.2:p.Leu1277Ter
ENST00000512211.7:c.3830T>G	ENSP00000423828.3:p.Leu1277Ter
ENST00000257430.9:c.3830T>G MANE Select	ENSP00000257430.4:p.Leu1277Ter
ENST00000257430.8:c.3830T>G	ENSP00000257430.4:p.Leu1277Ter
ENST00000502371.2:c.2183T>G
ENST00000508376.6:c.3830T>G	ENSP00000427089.2:p.Leu1277Ter
ENST00000508624.5:c.*3152T>G	ENSP00000424265.1:n.*3152T>G
ENST00000512211.6:c.3830T>G	ENSP00000423828.2:p.Leu1277Ter
ENST00000520401.1:c.230+10452T>G
NM_000038.5:c.3830T>G	NP_000029.2:p.Leu1277Ter
NM_001127510.2:c.3830T>G	NP_001120982.1:p.Leu1277Ter
NM_001127511.2:c.3776T>G	NP_001120983.2:p.Leu1259Ter
NM_001354895.1:c.3830T>G	NP_001341824.1:p.Leu1277Ter
NM_001354896.1:c.3884T>G	NP_001341825.1:p.Leu1295Ter
NM_001354897.1:c.3860T>G	NP_001341826.1:p.Leu1287Ter
NM_001354898.1:c.3755T>G	NP_001341827.1:p.Leu1252Ter
NM_001354899.1:c.3746T>G	NP_001341828.1:p.Leu1249Ter
NM_001354900.1:c.3707T>G	NP_001341829.1:p.Leu1236Ter
NM_001354901.1:c.3653T>G	NP_001341830.1:p.Leu1218Ter
NM_001354902.1:c.3557T>G	NP_001341831.1:p.Leu1186Ter
NM_001354903.1:c.3527T>G	NP_001341832.1:p.Leu1176Ter
NM_001354904.1:c.3452T>G	NP_001341833.1:p.Leu1151Ter
NM_001354905.1:c.3350T>G	NP_001341834.1:p.Leu1117Ter
NM_001354906.1:c.2981T>G	NP_001341835.1:p.Leu994Ter
NM_000038.6:c.3830T>G MANE Select	NP_000029.2:p.Leu1277Ter
NM_001127510.3:c.3830T>G	NP_001120982.1:p.Leu1277Ter
NM_001127511.3:c.3776T>G	NP_001120983.2:p.Leu1259Ter
NM_001354895.2:c.3830T>G	NP_001341824.1:p.Leu1277Ter
NM_001354896.2:c.3884T>G	NP_001341825.1:p.Leu1295Ter
NM_001354897.2:c.3860T>G	NP_001341826.1:p.Leu1287Ter
NM_001354898.2:c.3755T>G	NP_001341827.1:p.Leu1252Ter
NM_001354899.2:c.3746T>G	NP_001341828.1:p.Leu1249Ter
NM_001354900.2:c.3707T>G	NP_001341829.1:p.Leu1236Ter
NM_001354901.2:c.3653T>G	NP_001341830.1:p.Leu1218Ter
NM_001354902.2:c.3557T>G	NP_001341831.1:p.Leu1186Ter
NM_001354903.2:c.3527T>G	NP_001341832.1:p.Leu1176Ter
NM_001354904.2:c.3452T>G	NP_001341833.1:p.Leu1151Ter
NM_001354905.2:c.3350T>G	NP_001341834.1:p.Leu1117Ter
NM_001354906.2:c.2981T>G	NP_001341835.1:p.Leu994Ter