Canonical Allele Identifier: CA419883548

Gene: AMPD1

Linked Data

• dbSNP Id: rs1415113853
• gnomAD v3: 1-114684353-T-C
• gnomAD v4: 1-114684353-T-C
• MyVariant Identifiers: chr1:g.115226974T>C (hg19) ; chr1:g.114684353T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684353T>C , CM000663.2:g.114684353T>C	GRCh38
NC_000001.10:g.115226974T>C , CM000663.1:g.115226974T>C	GRCh37
NC_000001.9:g.115028497T>C	NCBI36
NG_008012.1:g.16203A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.381A>G	ENSP00000358551.4:p.Glu127=
ENST00000520113.7:c.393A>G MANE Select	ENSP00000430075.3:p.Glu131=
ENST00000637080.1:c.396A>G	ENSP00000489753.1:p.Glu132=
ENST00000639077.1:n.58A>G
ENST00000369538.3:c.480A>G	ENSP00000358551.3:p.Glu160=
ENST00000485564.3:n.267A>G
ENST00000520113.6:c.492A>G	ENSP00000430075.2:p.Glu164=
NM_000036.2:c.492A>G	NP_000027.2:p.Glu164=
NM_001172626.1:c.480A>G	NP_001166097.1:p.Glu160=
NM_000036.3:c.393A>G MANE Select	NP_000027.3:p.Glu131=
NM_001172626.2:c.381A>G	NP_001166097.2:p.Glu127=