Canonical Allele Identifier: CA365652589

Gene: ENPP1

Linked Data

• ClinVar Variation Id: 2700876
• ClinVar RCV Id: RCV003547436
• MyVariant Identifiers: chr6:g.132198290T>A (hg19) ; chr6:g.131877150T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877150T>A , CM000668.2:g.131877150T>A	GRCh38
NC_000006.11:g.132198290T>A , CM000668.1:g.132198290T>A	GRCh37
NC_000006.10:g.132239983T>A	NCBI36
NG_008206.1:g.74135T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683687.1:n.754T>A
ENST00000684536.1:n.380T>A
ENST00000647893.1:c.1882T>A MANE Select	ENSP00000498074.1:p.Cys628Ser
ENST00000647981.1:n.567T>A
ENST00000650437.1:c.1373T>A
ENST00000360971.6:c.1882T>A	ENSP00000354238.2:p.Cys628Ser
ENST00000459624.1:n.926T>A
ENST00000513998.5:c.*719T>A	ENSP00000422424.1:n.*719T>A
NM_006208.2:c.1882T>A	NP_006199.2:p.Cys628Ser
XM_011535896.1:c.772T>A	XP_011534198.1:p.Cys258Ser
NM_006208.3:c.1882T>A MANE Select	NP_006199.2:p.Cys628Ser