Canonical Allele Identifier: CA147895685

Gene: ENPP1

Linked Data

• dbSNP Id: rs909826438
• gnomAD v4: 6-131877063-G-A
• MyVariant Identifiers: chr6:g.132198203G>A (hg19) ; chr6:g.131877063G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877063G>A , CM000668.2:g.131877063G>A	GRCh38
NC_000006.11:g.132198203G>A , CM000668.1:g.132198203G>A	GRCh37
NC_000006.10:g.132239896G>A	NCBI36
NG_008206.1:g.74048G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683687.1:n.667G>A
ENST00000684536.1:n.293G>A
ENST00000647893.1:c.1795G>A MANE Select	ENSP00000498074.1:p.Val599Ile
ENST00000647981.1:n.480G>A
ENST00000650437.1:c.1286G>A
ENST00000360971.6:c.1795G>A	ENSP00000354238.2:p.Val599Ile
ENST00000459624.1:n.839G>A
ENST00000513998.5:c.*632G>A	ENSP00000422424.1:n.*632G>A
NM_006208.2:c.1795G>A	NP_006199.2:p.Val599Ile
XM_011535896.1:c.685G>A	XP_011534198.1:p.Val229Ile
NM_006208.3:c.1795G>A MANE Select	NP_006199.2:p.Val599Ile