Canonical Allele Identifier: CA341752771

Gene: AMPD1

Linked Data

• dbSNP Id: rs1243114972
• gnomAD v2: 1-115226951-C-A
• gnomAD v4: 1-114684330-C-A
• MyVariant Identifiers: chr1:g.115226951C>A (hg19) ; chr1:g.114684330C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.404G>T	ENSP00000358551.4:p.Gly135Val
ENST00000520113.7:c.416G>T MANE Select	ENSP00000430075.3:p.Gly139Val
ENST00000637080.1:c.419G>T	ENSP00000489753.1:p.Gly140Val
ENST00000639077.1:n.81G>T
ENST00000369538.3:c.503G>T	ENSP00000358551.3:p.Gly168Val
ENST00000485564.3:n.290G>T
ENST00000520113.6:c.515G>T	ENSP00000430075.2:p.Gly172Val
NM_000036.2:c.515G>T	NP_000027.2:p.Gly172Val
NM_001172626.1:c.503G>T	NP_001166097.1:p.Gly168Val
NM_000036.3:c.416G>T MANE Select	NP_000027.3:p.Gly139Val
NM_001172626.2:c.404G>T	NP_001166097.2:p.Gly135Val