Canonical Allele Identifier: CA147895693

Gene: ENPP1

Linked Data

• dbSNP Id: rs371248909
• gnomAD v3: 6-131877065-T-G
• gnomAD v4: 6-131877065-T-G
• MyVariant Identifiers: chr6:g.132198205T>G (hg19) ; chr6:g.131877065T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877065T>G , CM000668.2:g.131877065T>G	GRCh38
NC_000006.11:g.132198205T>G , CM000668.1:g.132198205T>G	GRCh37
NC_000006.10:g.132239898T>G	NCBI36
NG_008206.1:g.74050T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683687.1:n.669T>G
ENST00000684536.1:n.295T>G
ENST00000647893.1:c.1797T>G MANE Select	ENSP00000498074.1:p.Val599=
ENST00000647981.1:n.482T>G
ENST00000650437.1:c.1288T>G
ENST00000360971.6:c.1797T>G	ENSP00000354238.2:p.Val599=
ENST00000459624.1:n.841T>G
ENST00000513998.5:c.*634T>G	ENSP00000422424.1:n.*634T>G
NM_006208.2:c.1797T>G	NP_006199.2:p.Val599=
XM_011535896.1:c.687T>G	XP_011534198.1:p.Val229=
NM_006208.3:c.1797T>G MANE Select	NP_006199.2:p.Val599=