Canonical Allele Identifier: CA29060090

Gene: AMPD1

Linked Data

• dbSNP Id: rs531732694
• gnomAD v3: 1-114684362-A-C
• gnomAD v4: 1-114684362-A-C
• MyVariant Identifiers: chr1:g.115226983A>C (hg19) ; chr1:g.114684362A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684362A>C , CM000663.2:g.114684362A>C	GRCh38
NC_000001.10:g.115226983A>C , CM000663.1:g.115226983A>C	GRCh37
NC_000001.9:g.115028506A>C	NCBI36
NG_008012.1:g.16194T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.372T>G	ENSP00000358551.4:p.Val124=
ENST00000520113.7:c.384T>G MANE Select	ENSP00000430075.3:p.Val128=
ENST00000637080.1:c.387T>G	ENSP00000489753.1:p.Val129=
ENST00000639077.1:n.49T>G
ENST00000369538.3:c.471T>G	ENSP00000358551.3:p.Val157=
ENST00000485564.3:n.258T>G
ENST00000520113.6:c.483T>G	ENSP00000430075.2:p.Val161=
NM_000036.2:c.483T>G	NP_000027.2:p.Val161=
NM_001172626.1:c.471T>G	NP_001166097.1:p.Val157=
NM_000036.3:c.384T>G MANE Select	NP_000027.3:p.Val128=
NM_001172626.2:c.372T>G	NP_001166097.2:p.Val124=