Canonical Allele Identifier: CA365651916

Gene: ENPP1

Linked Data

• dbSNP Id: rs1782237585
• MyVariant Identifiers: chr6:g.132198153C>T (hg19) ; chr6:g.131877013C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877013C>T , CM000668.2:g.131877013C>T	GRCh38
NC_000006.11:g.132198153C>T , CM000668.1:g.132198153C>T	GRCh37
NC_000006.10:g.132239846C>T	NCBI36
NG_008206.1:g.73998C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683687.1:n.617C>T
ENST00000684536.1:n.243C>T
ENST00000647893.1:c.1745C>T MANE Select	ENSP00000498074.1:p.Ala582Val
ENST00000647981.1:n.430C>T
ENST00000650437.1:c.1236C>T
ENST00000360971.6:c.1745C>T	ENSP00000354238.2:p.Ala582Val
ENST00000459624.1:n.789C>T
ENST00000513998.5:c.*582C>T	ENSP00000422424.1:n.*582C>T
NM_006208.2:c.1745C>T	NP_006199.2:p.Ala582Val
XM_011535896.1:c.635C>T	XP_011534198.1:p.Ala212Val
NM_006208.3:c.1745C>T MANE Select	NP_006199.2:p.Ala582Val