Canonical Allele Identifier: CA365652225

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132198207A>C (hg19) ; chr6:g.131877067A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877067A>C , CM000668.2:g.131877067A>C	GRCh38
NC_000006.11:g.132198207A>C , CM000668.1:g.132198207A>C	GRCh37
NC_000006.10:g.132239900A>C	NCBI36
NG_008206.1:g.74052A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683687.1:n.671A>C
ENST00000684536.1:n.297A>C
ENST00000647893.1:c.1799A>C MANE Select	ENSP00000498074.1:p.Tyr600Ser
ENST00000647981.1:n.484A>C
ENST00000650437.1:c.1290A>C
ENST00000360971.6:c.1799A>C	ENSP00000354238.2:p.Tyr600Ser
ENST00000459624.1:n.843A>C
ENST00000513998.5:c.*636A>C	ENSP00000422424.1:n.*636A>C
NM_006208.2:c.1799A>C	NP_006199.2:p.Tyr600Ser
XM_011535896.1:c.689A>C	XP_011534198.1:p.Tyr230Ser
NM_006208.3:c.1799A>C MANE Select	NP_006199.2:p.Tyr600Ser