Canonical Allele Identifier: CA341748992

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677932-T-G
• MyVariant Identifiers: chr1:g.115220553T>G (hg19) ; chr1:g.114677932T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677932T>G , CM000663.2:g.114677932T>G	GRCh38
NC_000001.10:g.115220553T>G , CM000663.1:g.115220553T>G	GRCh37
NC_000001.9:g.115022076T>G	NCBI36
NG_008012.1:g.22624A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1190A>C	ENSP00000358551.4:p.Glu397Ala
ENST00000520113.7:c.1202A>C MANE Select	ENSP00000430075.3:p.Glu401Ala
ENST00000637080.1:c.985A>C	ENSP00000489753.1:n.985A>C
ENST00000639077.1:n.867A>C
ENST00000369538.3:c.1289A>C	ENSP00000358551.3:p.Glu430Ala
ENST00000520113.6:c.1301A>C	ENSP00000430075.2:p.Glu434Ala
NM_000036.2:c.1301A>C	NP_000027.2:p.Glu434Ala
NM_001172626.1:c.1289A>C	NP_001166097.1:p.Glu430Ala
NM_000036.3:c.1202A>C MANE Select	NP_000027.3:p.Glu401Ala
NM_001172626.2:c.1190A>C	NP_001166097.2:p.Glu397Ala