Canonical Allele Identifier: CA341748960

Gene: AMPD1

Linked Data

• COSMIC: COSM5035381 ; COSM5035382
• MyVariant Identifiers: chr1:g.115220539T>C (hg19) ; chr1:g.114677918T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677918T>C , CM000663.2:g.114677918T>C	GRCh38
NC_000001.10:g.115220539T>C , CM000663.1:g.115220539T>C	GRCh37
NC_000001.9:g.115022062T>C	NCBI36
NG_008012.1:g.22638A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1204A>G	ENSP00000358551.4:p.Ile402Val
ENST00000520113.7:c.1216A>G MANE Select	ENSP00000430075.3:p.Ile406Val
ENST00000637080.1:c.999A>G	ENSP00000489753.1:n.999A>G
ENST00000639077.1:n.881A>G
ENST00000369538.3:c.1303A>G	ENSP00000358551.3:p.Ile435Val
ENST00000520113.6:c.1315A>G	ENSP00000430075.2:p.Ile439Val
NM_000036.2:c.1315A>G	NP_000027.2:p.Ile439Val
NM_001172626.1:c.1303A>G	NP_001166097.1:p.Ile435Val
NM_000036.3:c.1216A>G MANE Select	NP_000027.3:p.Ile406Val
NM_001172626.2:c.1204A>G	NP_001166097.2:p.Ile402Val