Canonical Allele Identifier: CA419883048

Gene: AMPD1

Linked Data

• dbSNP Id: rs1273595956
• gnomAD v2: 1-115220094-A-G
• gnomAD v4: 1-114677473-A-G
• MyVariant Identifiers: chr1:g.115220094A>G (hg19) ; chr1:g.114677473A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677473A>G , CM000663.2:g.114677473A>G	GRCh38
NC_000001.10:g.115220094A>G , CM000663.1:g.115220094A>G	GRCh37
NC_000001.9:g.115021617A>G	NCBI36
NG_008012.1:g.23083T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1254T>C	ENSP00000358551.4:p.Ala418=
ENST00000520113.7:c.1266T>C MANE Select	ENSP00000430075.3:p.Ala422=
ENST00000637080.1:c.1049T>C	ENSP00000489753.1:n.1049T>C
ENST00000639077.1:n.931T>C
ENST00000369538.3:c.1353T>C	ENSP00000358551.3:p.Ala451=
ENST00000520113.6:c.1365T>C	ENSP00000430075.2:p.Ala455=
NM_000036.2:c.1365T>C	NP_000027.2:p.Ala455=
NM_001172626.1:c.1353T>C	NP_001166097.1:p.Ala451=
NM_000036.3:c.1266T>C MANE Select	NP_000027.3:p.Ala422=
NM_001172626.2:c.1254T>C	NP_001166097.2:p.Ala418=