Canonical Allele Identifier: CA452155541
Gene: ENPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.132182752G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131861612G>A , CM000668.2:g.131861612G>A GRCh38
NC_000006.11:g.132182752G>A , CM000668.1:g.132182752G>A GRCh37
NC_000006.10:g.132224445G>A NCBI36
NG_008206.1:g.58597G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.933G>A MANE Select ENSP00000498074.1:p.Lys311=
ENST00000650147.1:c.550G>A
ENST00000650437.1:c.424G>A
ENST00000360971.6:c.933G>A ENSP00000354238.2:p.Lys311=
ENST00000459624.1:n.3G>A
ENST00000513998.5:c.933G>A ENSP00000422424.1:p.Lys311=
NM_006208.2:c.933G>A NP_006199.2:p.Lys311=
NM_006208.3:c.933G>A MANE Select NP_006199.2:p.Lys311=