Canonical Allele Identifier: CA365661270
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs2114737134

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890475G>T , CM000668.2:g.131890475G>T GRCh38
NC_000006.11:g.132211615G>T , CM000668.1:g.132211615G>T GRCh37
NC_000006.10:g.132253308G>T NCBI36
NG_008206.1:g.87460G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1173G>T
ENST00000647893.1:c.2742G>T MANE Select ENSP00000498074.1:p.Leu914Phe
ENST00000360971.6:c.2742G>T ENSP00000354238.2:p.Leu914Phe
ENST00000513998.5:c.*1579G>T ENSP00000422424.1:n.*1579G>T
NM_006208.2:c.2742G>T NP_006199.2:p.Leu914Phe
XM_011535896.1:c.1632G>T XP_011534198.1:p.Leu544Phe
NM_006208.3:c.2742G>T MANE Select NP_006199.2:p.Leu914Phe