Canonical Allele Identifier: CA341752899

Gene: AMPD1

Linked Data

• dbSNP Id: rs1334976765
• gnomAD v4: 1-114684364-C-T
• MyVariant Identifiers: chr1:g.115226985C>T (hg19) ; chr1:g.114684364C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684364C>T , CM000663.2:g.114684364C>T	GRCh38
NC_000001.10:g.115226985C>T , CM000663.1:g.115226985C>T	GRCh37
NC_000001.9:g.115028508C>T	NCBI36
NG_008012.1:g.16192G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.370G>A	ENSP00000358551.4:p.Val124Ile
ENST00000520113.7:c.382G>A MANE Select	ENSP00000430075.3:p.Val128Ile
ENST00000637080.1:c.385G>A	ENSP00000489753.1:p.Val129Ile
ENST00000639077.1:n.47G>A
ENST00000369538.3:c.469G>A	ENSP00000358551.3:p.Val157Ile
ENST00000485564.3:n.256G>A
ENST00000520113.6:c.481G>A	ENSP00000430075.2:p.Val161Ile
NM_000036.2:c.481G>A	NP_000027.2:p.Val161Ile
NM_001172626.1:c.469G>A	NP_001166097.1:p.Val157Ile
NM_000036.3:c.382G>A MANE Select	NP_000027.3:p.Val128Ile
NM_001172626.2:c.370G>A	NP_001166097.2:p.Val124Ile