Canonical Allele Identifier: CA365652351

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132198233C>G (hg19) ; chr6:g.131877093C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877093C>G , CM000668.2:g.131877093C>G	GRCh38
NC_000006.11:g.132198233C>G , CM000668.1:g.132198233C>G	GRCh37
NC_000006.10:g.132239926C>G	NCBI36
NG_008206.1:g.74078C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683687.1:n.697C>G
ENST00000684536.1:n.323C>G
ENST00000647893.1:c.1825C>G MANE Select	ENSP00000498074.1:p.His609Asp
ENST00000647981.1:n.510C>G
ENST00000650437.1:c.1316C>G
ENST00000360971.6:c.1825C>G	ENSP00000354238.2:p.His609Asp
ENST00000459624.1:n.869C>G
ENST00000513998.5:c.*662C>G	ENSP00000422424.1:n.*662C>G
NM_006208.2:c.1825C>G	NP_006199.2:p.His609Asp
XM_011535896.1:c.715C>G	XP_011534198.1:p.His239Asp
NM_006208.3:c.1825C>G MANE Select	NP_006199.2:p.His609Asp