Canonical Allele Identifier: CA341752347

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226841C>T (hg19) ; chr1:g.114684220C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684220C>T , CM000663.2:g.114684220C>T	GRCh38
NC_000001.10:g.115226841C>T , CM000663.1:g.115226841C>T	GRCh37
NC_000001.9:g.115028364C>T	NCBI36
NG_008012.1:g.16336G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.514G>A	ENSP00000358551.4:p.Ala172Thr
ENST00000520113.7:c.526G>A MANE Select	ENSP00000430075.3:p.Ala176Thr
ENST00000637080.1:c.529G>A	ENSP00000489753.1:p.Ala177Thr
ENST00000639077.1:n.191G>A
ENST00000369538.3:c.613G>A	ENSP00000358551.3:p.Ala205Thr
ENST00000485564.3:n.400G>A
ENST00000520113.6:c.625G>A	ENSP00000430075.2:p.Ala209Thr
NM_000036.2:c.625G>A	NP_000027.2:p.Ala209Thr
NM_001172626.1:c.613G>A	NP_001166097.1:p.Ala205Thr
NM_000036.3:c.526G>A MANE Select	NP_000027.3:p.Ala176Thr
NM_001172626.2:c.514G>A	NP_001166097.2:p.Ala172Thr