Canonical Allele Identifier: CA452155547
Gene: ENPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.132182761C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131861621C>T , CM000668.2:g.131861621C>T GRCh38
NC_000006.11:g.132182761C>T , CM000668.1:g.132182761C>T GRCh37
NC_000006.10:g.132224454C>T NCBI36
NG_008206.1:g.58606C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.942C>T MANE Select ENSP00000498074.1:p.Gly314=
ENST00000650147.1:c.559C>T
ENST00000650437.1:c.433C>T
ENST00000360971.6:c.942C>T ENSP00000354238.2:p.Gly314=
ENST00000459624.1:n.12C>T
ENST00000513998.5:c.942C>T ENSP00000422424.1:p.Gly314=
NM_006208.2:c.942C>T NP_006199.2:p.Gly314=
NM_006208.3:c.942C>T MANE Select NP_006199.2:p.Gly314=