Canonical Allele Identifier: CA4002313

Gene: ENPP1

Linked Data

• dbSNP Id: rs762158855
• ExAC: 6:132198112 A / G
• gnomAD v2: 6-132198112-A-G
• gnomAD v4: 6-131876972-A-G
• MyVariant Identifiers: chr6:g.132198112A>G (hg19) ; chr6:g.131876972A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131876972A>G , CM000668.2:g.131876972A>G	GRCh38
NC_000006.11:g.132198112A>G , CM000668.1:g.132198112A>G	GRCh37
NC_000006.10:g.132239805A>G	NCBI36
NG_008206.1:g.73957A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683687.1:n.596-20A>G
ENST00000684536.1:n.222-20A>G
ENST00000647893.1:c.1724-20A>G MANE Select	ENSP00000498074.1:n.1724-20A>G
ENST00000647981.1:n.409-20A>G
ENST00000650437.1:c.1215-20A>G
ENST00000360971.6:c.1724-20A>G	ENSP00000354238.2:n.1724-20A>G
ENST00000459624.1:n.768-20A>G
ENST00000513998.5:c.*561-20A>G	ENSP00000422424.1:n.*561-20A>G
NM_006208.2:c.1724-20A>G	NP_006199.2:n.1724-20A>G
XM_011535896.1:c.614-20A>G	XP_011534198.1:n.614-20A>G
NM_006208.3:c.1724-20A>G MANE Select	NP_006199.2:n.1724-20A>G