Canonical Allele Identifier: CA452157140

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132198217G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877077G>A , CM000668.2:g.131877077G>A	GRCh38
NC_000006.11:g.132198217G>A , CM000668.1:g.132198217G>A	GRCh37
NC_000006.10:g.132239910G>A	NCBI36
NG_008206.1:g.74062G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683687.1:n.681G>A
ENST00000684536.1:n.307G>A
ENST00000647893.1:c.1809G>A MANE Select	ENSP00000498074.1:p.Lys603=
ENST00000647981.1:n.494G>A
ENST00000650437.1:c.1300G>A
ENST00000360971.6:c.1809G>A	ENSP00000354238.2:p.Lys603=
ENST00000459624.1:n.853G>A
ENST00000513998.5:c.*646G>A	ENSP00000422424.1:n.*646G>A
NM_006208.2:c.1809G>A	NP_006199.2:p.Lys603=
XM_011535896.1:c.699G>A	XP_011534198.1:p.Lys233=
NM_006208.3:c.1809G>A MANE Select	NP_006199.2:p.Lys603=