Canonical Allele Identifier: CA1020188
Gene: AMPD1 HGNC NCBI
ClinVar RCV:
RCV002049967
RCV004038730
ClinVar Variation:
1345886
COSMIC:
COSM6057463
COSM6057464
dbSNP:
144014236
gnomAD v2:
1:115220534 G / C
gnomAD v3:
1:114677913 G / C
gnomAD v4:
chr1-114677913-G-C
Joint Max Group AF 0.00065635 (MID)
Exomes Max Group AF 0.00045291 (MID)
MyVariant.info:
GRCh38 chr1:g.114677913G>C
GRCh37 chr1:g.115220534G>C
Revel Score:
ENST00000520113 (MANE Select) 0.702
ENST00000369538 0.702
ENST00000353928 0.702
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677913G>C , CM000663.2:g.114677913G>C GRCh38
NC_000001.10:g.115220534G>C , CM000663.1:g.115220534G>C GRCh37
NC_000001.9:g.115022057G>C NCBI36
NG_008012.1:g.22643C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1209C>G ENSP00000358551.4:p.Ile403Met
ENST00000520113.7:c.1221C>G MANE Select ENSP00000430075.3:p.Ile407Met
ENST00000637080.1:c.1004C>G ENSP00000489753.1:n.1004C>G
ENST00000639077.1:n.886C>G
ENST00000369538.3:c.1308C>G ENSP00000358551.3:p.Ile436Met
ENST00000520113.6:c.1320C>G ENSP00000430075.2:p.Ile440Met
NM_000036.2:c.1320C>G NP_000027.2:p.Ile440Met
NM_001172626.1:c.1308C>G NP_001166097.1:p.Ile436Met
NM_000036.3:c.1221C>G MANE Select NP_000027.3:p.Ile407Met
NM_001172626.2:c.1209C>G NP_001166097.2:p.Ile403Met
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