Canonical Allele Identifier: CA341750062

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114679621-C-A
• MyVariant Identifiers: chr1:g.115222242C>A (hg19) ; chr1:g.114679621C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679621C>A , CM000663.2:g.114679621C>A	GRCh38
NC_000001.10:g.115222242C>A , CM000663.1:g.115222242C>A	GRCh37
NC_000001.9:g.115023765C>A	NCBI36
NG_008012.1:g.20935G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.843G>T	ENSP00000358551.4:p.Glu281Asp
ENST00000520113.7:c.855G>T MANE Select	ENSP00000430075.3:p.Glu285Asp
ENST00000637080.1:c.638G>T	ENSP00000489753.1:n.638G>T
ENST00000639077.1:n.520G>T
ENST00000369538.3:c.942G>T	ENSP00000358551.3:p.Glu314Asp
ENST00000520113.6:c.954G>T	ENSP00000430075.2:p.Glu318Asp
NM_000036.2:c.954G>T	NP_000027.2:p.Glu318Asp
NM_001172626.1:c.942G>T	NP_001166097.1:p.Glu314Asp
NM_000036.3:c.855G>T MANE Select	NP_000027.3:p.Glu285Asp
NM_001172626.2:c.843G>T	NP_001166097.2:p.Glu281Asp