Canonical Allele Identifier: CA341752338

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226840G>A (hg19) ; chr1:g.114684219G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684219G>A , CM000663.2:g.114684219G>A	GRCh38
NC_000001.10:g.115226840G>A , CM000663.1:g.115226840G>A	GRCh37
NC_000001.9:g.115028363G>A	NCBI36
NG_008012.1:g.16337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.515C>T	ENSP00000358551.4:p.Ala172Val
ENST00000520113.7:c.527C>T MANE Select	ENSP00000430075.3:p.Ala176Val
ENST00000637080.1:c.530C>T	ENSP00000489753.1:p.Ala177Val
ENST00000639077.1:n.192C>T
ENST00000369538.3:c.614C>T	ENSP00000358551.3:p.Ala205Val
ENST00000485564.3:n.401C>T
ENST00000520113.6:c.626C>T	ENSP00000430075.2:p.Ala209Val
NM_000036.2:c.626C>T	NP_000027.2:p.Ala209Val
NM_001172626.1:c.614C>T	NP_001166097.1:p.Ala205Val
NM_000036.3:c.527C>T MANE Select	NP_000027.3:p.Ala176Val
NM_001172626.2:c.515C>T	NP_001166097.2:p.Ala172Val