Canonical Allele Identifier: CA341749103

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220604G>A (hg19) ; chr1:g.114677983G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677983G>A , CM000663.2:g.114677983G>A	GRCh38
NC_000001.10:g.115220604G>A , CM000663.1:g.115220604G>A	GRCh37
NC_000001.9:g.115022127G>A	NCBI36
NG_008012.1:g.22573C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1139C>T	ENSP00000358551.4:p.Ala380Val
ENST00000520113.7:c.1151C>T MANE Select	ENSP00000430075.3:p.Ala384Val
ENST00000637080.1:c.934C>T	ENSP00000489753.1:n.934C>T
ENST00000639077.1:n.816C>T
ENST00000369538.3:c.1238C>T	ENSP00000358551.3:p.Ala413Val
ENST00000520113.6:c.1250C>T	ENSP00000430075.2:p.Ala417Val
NM_000036.2:c.1250C>T	NP_000027.2:p.Ala417Val
NM_001172626.1:c.1238C>T	NP_001166097.1:p.Ala413Val
NM_000036.3:c.1151C>T MANE Select	NP_000027.3:p.Ala384Val
NM_001172626.2:c.1139C>T	NP_001166097.2:p.Ala380Val