Canonical Allele Identifier: CA2578743218
Gene: ENPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890532A>G , CM000668.2:g.131890532A>G GRCh38
NC_000006.11:g.132211672A>G , CM000668.1:g.132211672A>G GRCh37
NC_000006.10:g.132253365A>G NCBI36
NG_008206.1:g.87517A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1230A>G
ENST00000647893.1:c.*21A>G MANE Select ENSP00000498074.1:n.*21A>G
ENST00000360971.6:c.*21A>G ENSP00000354238.2:n.*21A>G
ENST00000513998.5:c.*1636A>G ENSP00000422424.1:n.*1636A>G
NM_006208.2:c.*21A>G NP_006199.2:n.*21A>G
XM_011535896.1:c.*21A>G XP_011534198.1:n.*21A>G
NM_006208.3:c.*21A>G MANE Select NP_006199.2:n.*21A>G