Canonical Allele Identifier: CA341752773

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226951C>G (hg19) ; chr1:g.114684330C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684330C>G , CM000663.2:g.114684330C>G	GRCh38
NC_000001.10:g.115226951C>G , CM000663.1:g.115226951C>G	GRCh37
NC_000001.9:g.115028474C>G	NCBI36
NG_008012.1:g.16226G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.404G>C	ENSP00000358551.4:p.Gly135Ala
ENST00000520113.7:c.416G>C MANE Select	ENSP00000430075.3:p.Gly139Ala
ENST00000637080.1:c.419G>C	ENSP00000489753.1:p.Gly140Ala
ENST00000639077.1:n.81G>C
ENST00000369538.3:c.503G>C	ENSP00000358551.3:p.Gly168Ala
ENST00000485564.3:n.290G>C
ENST00000520113.6:c.515G>C	ENSP00000430075.2:p.Gly172Ala
NM_000036.2:c.515G>C	NP_000027.2:p.Gly172Ala
NM_001172626.1:c.503G>C	NP_001166097.1:p.Gly168Ala
NM_000036.3:c.416G>C MANE Select	NP_000027.3:p.Gly139Ala
NM_001172626.2:c.404G>C	NP_001166097.2:p.Gly135Ala