Canonical Allele Identifier: CA365652093

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132198182A>C (hg19) ; chr6:g.131877042A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877042A>C , CM000668.2:g.131877042A>C	GRCh38
NC_000006.11:g.132198182A>C , CM000668.1:g.132198182A>C	GRCh37
NC_000006.10:g.132239875A>C	NCBI36
NG_008206.1:g.74027A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683687.1:n.646A>C
ENST00000684536.1:n.272A>C
ENST00000647893.1:c.1774A>C MANE Select	ENSP00000498074.1:p.Asn592His
ENST00000647981.1:n.459A>C
ENST00000650437.1:c.1265A>C
ENST00000360971.6:c.1774A>C	ENSP00000354238.2:p.Asn592His
ENST00000459624.1:n.818A>C
ENST00000513998.5:c.*611A>C	ENSP00000422424.1:n.*611A>C
NM_006208.2:c.1774A>C	NP_006199.2:p.Asn592His
XM_011535896.1:c.664A>C	XP_011534198.1:p.Asn222His
NM_006208.3:c.1774A>C MANE Select	NP_006199.2:p.Asn592His