Canonical Allele Identifier: CA365652631

Gene: ENPP1

Linked Data

• dbSNP Id: rs1782240229
• MyVariant Identifiers: chr6:g.132198299T>C (hg19) ; chr6:g.131877159T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877159T>C , CM000668.2:g.131877159T>C	GRCh38
NC_000006.11:g.132198299T>C , CM000668.1:g.132198299T>C	GRCh37
NC_000006.10:g.132239992T>C	NCBI36
NG_008206.1:g.74144T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683687.1:n.763T>C
ENST00000684536.1:n.389T>C
ENST00000647893.1:c.1891T>C MANE Select	ENSP00000498074.1:p.Ser631Pro
ENST00000647981.1:n.576T>C
ENST00000650437.1:c.1382T>C
ENST00000360971.6:c.1891T>C	ENSP00000354238.2:p.Ser631Pro
ENST00000459624.1:n.935T>C
ENST00000513998.5:c.*728T>C	ENSP00000422424.1:n.*728T>C
NM_006208.2:c.1891T>C	NP_006199.2:p.Ser631Pro
XM_011535896.1:c.781T>C	XP_011534198.1:p.Ser261Pro
NM_006208.3:c.1891T>C MANE Select	NP_006199.2:p.Ser631Pro