Canonical Allele Identifier: CA341749114

Gene: AMPD1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677989A>G , CM000663.2:g.114677989A>G	GRCh38
NC_000001.10:g.115220610A>G , CM000663.1:g.115220610A>G	GRCh37
NC_000001.9:g.115022133A>G	NCBI36
NG_008012.1:g.22567T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1133T>C	ENSP00000358551.4:p.Val378Ala
ENST00000520113.7:c.1145T>C MANE Select	ENSP00000430075.3:p.Val382Ala
ENST00000637080.1:c.928T>C	ENSP00000489753.1:n.928T>C
ENST00000639077.1:n.810T>C
ENST00000369538.3:c.1232T>C	ENSP00000358551.3:p.Val411Ala
ENST00000520113.6:c.1244T>C	ENSP00000430075.2:p.Val415Ala
NM_000036.2:c.1244T>C	NP_000027.2:p.Val415Ala
NM_001172626.1:c.1232T>C	NP_001166097.1:p.Val411Ala
NM_000036.3:c.1145T>C MANE Select	NP_000027.3:p.Val382Ala
NM_001172626.2:c.1133T>C	NP_001166097.2:p.Val378Ala