Canonical Allele Identifier: CA341752810

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114684340-C-A
• COSMIC: COSM5030915 ; COSM5030916
• MyVariant Identifiers: chr1:g.115226961C>A (hg19) ; chr1:g.114684340C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684340C>A , CM000663.2:g.114684340C>A	GRCh38
NC_000001.10:g.115226961C>A , CM000663.1:g.115226961C>A	GRCh37
NC_000001.9:g.115028484C>A	NCBI36
NG_008012.1:g.16216G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.394G>T	ENSP00000358551.4:p.Val132Phe
ENST00000520113.7:c.406G>T MANE Select	ENSP00000430075.3:p.Val136Phe
ENST00000637080.1:c.409G>T	ENSP00000489753.1:p.Val137Phe
ENST00000639077.1:n.71G>T
ENST00000369538.3:c.493G>T	ENSP00000358551.3:p.Val165Phe
ENST00000485564.3:n.280G>T
ENST00000520113.6:c.505G>T	ENSP00000430075.2:p.Val169Phe
NM_000036.2:c.505G>T	NP_000027.2:p.Val169Phe
NM_001172626.1:c.493G>T	NP_001166097.1:p.Val165Phe
NM_000036.3:c.406G>T MANE Select	NP_000027.3:p.Val136Phe
NM_001172626.2:c.394G>T	NP_001166097.2:p.Val132Phe