Canonical Allele Identifier: CA452161709
Gene: ENPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.132211567C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890427C>A , CM000668.2:g.131890427C>A GRCh38
NC_000006.11:g.132211567C>A , CM000668.1:g.132211567C>A GRCh37
NC_000006.10:g.132253260C>A NCBI36
NG_008206.1:g.87412C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1125C>A
ENST00000647893.1:c.2694C>A MANE Select ENSP00000498074.1:p.Leu898=
ENST00000360971.6:c.2694C>A ENSP00000354238.2:p.Leu898=
ENST00000513998.5:c.*1531C>A ENSP00000422424.1:n.*1531C>A
NM_006208.2:c.2694C>A NP_006199.2:p.Leu898=
XM_011535896.1:c.1584C>A XP_011534198.1:p.Leu528=
NM_006208.3:c.2694C>A MANE Select NP_006199.2:p.Leu898=