Canonical Allele Identifier: CA419883515

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658247587
• gnomAD v3: 1-114684302-C-T
• gnomAD v4: 1-114684302-C-T
• COSMIC: COSM2177418 ; COSM2177419
• MyVariant Identifiers: chr1:g.115226923C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684302C>T , CM000663.2:g.114684302C>T	GRCh38
NC_000001.10:g.115226923C>T , CM000663.1:g.115226923C>T	GRCh37
NC_000001.9:g.115028446C>T	NCBI36
NG_008012.1:g.16254G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.432G>A	ENSP00000358551.4:p.Glu144=
ENST00000520113.7:c.444G>A MANE Select	ENSP00000430075.3:p.Glu148=
ENST00000637080.1:c.447G>A	ENSP00000489753.1:p.Glu149=
ENST00000639077.1:n.109G>A
ENST00000369538.3:c.531G>A	ENSP00000358551.3:p.Glu177=
ENST00000485564.3:n.318G>A
ENST00000520113.6:c.543G>A	ENSP00000430075.2:p.Glu181=
NM_000036.2:c.543G>A	NP_000027.2:p.Glu181=
NM_001172626.1:c.531G>A	NP_001166097.1:p.Glu177=
NM_000036.3:c.444G>A MANE Select	NP_000027.3:p.Glu148=
NM_001172626.2:c.432G>A	NP_001166097.2:p.Glu144=