Canonical Allele Identifier: CA452157185
Gene: ENPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.132198286C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131877146C>T , CM000668.2:g.131877146C>T GRCh38
NC_000006.11:g.132198286C>T , CM000668.1:g.132198286C>T GRCh37
NC_000006.10:g.132239979C>T NCBI36
NG_008206.1:g.74131C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683687.1:n.750C>T
ENST00000684536.1:n.376C>T
ENST00000647893.1:c.1878C>T MANE Select ENSP00000498074.1:p.Cys626=
ENST00000647981.1:n.563C>T
ENST00000650437.1:c.1369C>T
ENST00000360971.6:c.1878C>T ENSP00000354238.2:p.Cys626=
ENST00000459624.1:n.922C>T
ENST00000513998.5:c.*715C>T ENSP00000422424.1:n.*715C>T
NM_006208.2:c.1878C>T NP_006199.2:p.Cys626=
XM_011535896.1:c.768C>T XP_011534198.1:p.Cys256=
NM_006208.3:c.1878C>T MANE Select NP_006199.2:p.Cys626=