Canonical Allele Identifier: CA452157106
Gene: ENPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.132198157T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131877017T>A , CM000668.2:g.131877017T>A GRCh38
NC_000006.11:g.132198157T>A , CM000668.1:g.132198157T>A GRCh37
NC_000006.10:g.132239850T>A NCBI36
NG_008206.1:g.74002T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000683687.1:n.621T>A
ENST00000684536.1:n.247T>A
ENST00000647893.1:c.1749T>A MANE Select ENSP00000498074.1:p.Pro583=
ENST00000647981.1:n.434T>A
ENST00000650437.1:c.1240T>A
ENST00000360971.6:c.1749T>A ENSP00000354238.2:p.Pro583=
ENST00000459624.1:n.793T>A
ENST00000513998.5:c.*586T>A ENSP00000422424.1:n.*586T>A
NM_006208.2:c.1749T>A NP_006199.2:p.Pro583=
XM_011535896.1:c.639T>A XP_011534198.1:p.Pro213=
NM_006208.3:c.1749T>A MANE Select NP_006199.2:p.Pro583=