Canonical Allele Identifier: CA365651838

Gene: ENPP1

Linked Data

• dbSNP Id: rs1304583170
• gnomAD v2: 6-132198149-C-G
• gnomAD v4: 6-131877009-C-G
• MyVariant Identifiers: chr6:g.132198149C>G (hg19) ; chr6:g.131877009C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877009C>G , CM000668.2:g.131877009C>G	GRCh38
NC_000006.11:g.132198149C>G , CM000668.1:g.132198149C>G	GRCh37
NC_000006.10:g.132239842C>G	NCBI36
NG_008206.1:g.73994C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683687.1:n.613C>G
ENST00000684536.1:n.239C>G
ENST00000647893.1:c.1741C>G MANE Select	ENSP00000498074.1:p.Pro581Ala
ENST00000647981.1:n.426C>G
ENST00000650437.1:c.1232C>G
ENST00000360971.6:c.1741C>G	ENSP00000354238.2:p.Pro581Ala
ENST00000459624.1:n.785C>G
ENST00000513998.5:c.*578C>G	ENSP00000422424.1:n.*578C>G
NM_006208.2:c.1741C>G	NP_006199.2:p.Pro581Ala
XM_011535896.1:c.631C>G	XP_011534198.1:p.Pro211Ala
NM_006208.3:c.1741C>G MANE Select	NP_006199.2:p.Pro581Ala