Canonical Allele Identifier: CA341752893

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226984A>G (hg19) ; chr1:g.114684363A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684363A>G , CM000663.2:g.114684363A>G	GRCh38
NC_000001.10:g.115226984A>G , CM000663.1:g.115226984A>G	GRCh37
NC_000001.9:g.115028507A>G	NCBI36
NG_008012.1:g.16193T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.371T>C	ENSP00000358551.4:p.Val124Ala
ENST00000520113.7:c.383T>C MANE Select	ENSP00000430075.3:p.Val128Ala
ENST00000637080.1:c.386T>C	ENSP00000489753.1:p.Val129Ala
ENST00000639077.1:n.48T>C
ENST00000369538.3:c.470T>C	ENSP00000358551.3:p.Val157Ala
ENST00000485564.3:n.257T>C
ENST00000520113.6:c.482T>C	ENSP00000430075.2:p.Val161Ala
NM_000036.2:c.482T>C	NP_000027.2:p.Val161Ala
NM_001172626.1:c.470T>C	NP_001166097.1:p.Val157Ala
NM_000036.3:c.383T>C MANE Select	NP_000027.3:p.Val128Ala
NM_001172626.2:c.371T>C	NP_001166097.2:p.Val124Ala