Canonical Allele Identifier: CA365652195

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132198201C>A (hg19) ; chr6:g.131877061C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877061C>A , CM000668.2:g.131877061C>A	GRCh38
NC_000006.11:g.132198201C>A , CM000668.1:g.132198201C>A	GRCh37
NC_000006.10:g.132239894C>A	NCBI36
NG_008206.1:g.74046C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683687.1:n.665C>A
ENST00000684536.1:n.291C>A
ENST00000647893.1:c.1793C>A MANE Select	ENSP00000498074.1:p.Pro598His
ENST00000647981.1:n.478C>A
ENST00000650437.1:c.1284C>A
ENST00000360971.6:c.1793C>A	ENSP00000354238.2:p.Pro598His
ENST00000459624.1:n.837C>A
ENST00000513998.5:c.*630C>A	ENSP00000422424.1:n.*630C>A
NM_006208.2:c.1793C>A	NP_006199.2:p.Pro598His
XM_011535896.1:c.683C>A	XP_011534198.1:p.Pro228His
NM_006208.3:c.1793C>A MANE Select	NP_006199.2:p.Pro598His