Canonical Allele Identifier: CA452154673

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132172397T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131851257T>G , CM000668.2:g.131851257T>G	GRCh38
NC_000006.11:g.132172397T>G , CM000668.1:g.132172397T>G	GRCh37
NC_000006.10:g.132214090T>G	NCBI36
NG_008206.1:g.48242T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647893.1:c.546T>G MANE Select	ENSP00000498074.1:p.Ser182=
ENST00000650147.1:c.224T>G
ENST00000650437.1:c.108+1151T>G
ENST00000360971.6:c.546T>G	ENSP00000354238.2:p.Ser182=
ENST00000486853.1:n.566T>G
ENST00000513998.5:c.546T>G	ENSP00000422424.1:p.Ser182=
NM_006208.2:c.546T>G	NP_006199.2:p.Ser182=
NM_006208.3:c.546T>G MANE Select	NP_006199.2:p.Ser182=