Canonical Allele Identifier: CA419883555

Gene: AMPD1

Linked Data

• COSMIC: COSM3740553 ; COSM3740554
• MyVariant Identifiers: chr1:g.115226983A>G (hg19)

Genomic Alleles

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

Transcript Alleles

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