Canonical Allele Identifier: CA341752785

Gene: AMPD1

Linked Data

• COSMIC: COSM4020912 ; COSM4020913
• MyVariant Identifiers: chr1:g.115226954T>C (hg19) ; chr1:g.114684333T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684333T>C , CM000663.2:g.114684333T>C	GRCh38
NC_000001.10:g.115226954T>C , CM000663.1:g.115226954T>C	GRCh37
NC_000001.9:g.115028477T>C	NCBI36
NG_008012.1:g.16223A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.401A>G	ENSP00000358551.4:p.Lys134Arg
ENST00000520113.7:c.413A>G MANE Select	ENSP00000430075.3:p.Lys138Arg
ENST00000637080.1:c.416A>G	ENSP00000489753.1:p.Lys139Arg
ENST00000639077.1:n.78A>G
ENST00000369538.3:c.500A>G	ENSP00000358551.3:p.Lys167Arg
ENST00000485564.3:n.287A>G
ENST00000520113.6:c.512A>G	ENSP00000430075.2:p.Lys171Arg
NM_000036.2:c.512A>G	NP_000027.2:p.Lys171Arg
NM_001172626.1:c.500A>G	NP_001166097.1:p.Lys167Arg
NM_000036.3:c.413A>G MANE Select	NP_000027.3:p.Lys138Arg
NM_001172626.2:c.401A>G	NP_001166097.2:p.Lys134Arg