Canonical Allele Identifier: CA341752823

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226964T>G (hg19) ; chr1:g.114684343T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684343T>G , CM000663.2:g.114684343T>G	GRCh38
NC_000001.10:g.115226964T>G , CM000663.1:g.115226964T>G	GRCh37
NC_000001.9:g.115028487T>G	NCBI36
NG_008012.1:g.16213A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.391A>C	ENSP00000358551.4:p.Ile131Leu
ENST00000520113.7:c.403A>C MANE Select	ENSP00000430075.3:p.Ile135Leu
ENST00000637080.1:c.406A>C	ENSP00000489753.1:p.Ile136Leu
ENST00000639077.1:n.68A>C
ENST00000369538.3:c.490A>C	ENSP00000358551.3:p.Ile164Leu
ENST00000485564.3:n.277A>C
ENST00000520113.6:c.502A>C	ENSP00000430075.2:p.Ile168Leu
NM_000036.2:c.502A>C	NP_000027.2:p.Ile168Leu
NM_001172626.1:c.490A>C	NP_001166097.1:p.Ile164Leu
NM_000036.3:c.403A>C MANE Select	NP_000027.3:p.Ile135Leu
NM_001172626.2:c.391A>C	NP_001166097.2:p.Ile131Leu