Canonical Allele Identifier: CA2773094723
Gene: ENPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890585T>G , CM000668.2:g.131890585T>G GRCh38
NC_000006.11:g.132211725T>G , CM000668.1:g.132211725T>G GRCh37
NC_000006.10:g.132253418T>G NCBI36
NG_008206.1:g.87570T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1283T>G
ENST00000647893.1:c.*74T>G MANE Select ENSP00000498074.1:n.*74T>G
ENST00000360971.6:c.*74T>G ENSP00000354238.2:n.*74T>G
ENST00000513998.5:c.*1689T>G ENSP00000422424.1:n.*1689T>G
NM_006208.2:c.*74T>G NP_006199.2:n.*74T>G
XM_011535896.1:c.*74T>G XP_011534198.1:n.*74T>G
NM_006208.3:c.*74T>G MANE Select NP_006199.2:n.*74T>G