Canonical Allele Identifier: CA452155537
Gene: ENPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.132182746A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131861606A>T , CM000668.2:g.131861606A>T GRCh38
NC_000006.11:g.132182746A>T , CM000668.1:g.132182746A>T GRCh37
NC_000006.10:g.132224439A>T NCBI36
NG_008206.1:g.58591A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.927A>T MANE Select ENSP00000498074.1:p.Thr309=
ENST00000650147.1:c.544A>T
ENST00000650437.1:c.418A>T
ENST00000360971.6:c.927A>T ENSP00000354238.2:p.Thr309=
ENST00000513998.5:c.927A>T ENSP00000422424.1:p.Thr309=
NM_006208.2:c.927A>T NP_006199.2:p.Thr309=
NM_006208.3:c.927A>T MANE Select NP_006199.2:p.Thr309=