Canonical Allele Identifier: CA365652185

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132198199T>A (hg19) ; chr6:g.131877059T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877059T>A , CM000668.2:g.131877059T>A	GRCh38
NC_000006.11:g.132198199T>A , CM000668.1:g.132198199T>A	GRCh37
NC_000006.10:g.132239892T>A	NCBI36
NG_008206.1:g.74044T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683687.1:n.663T>A
ENST00000684536.1:n.289T>A
ENST00000647893.1:c.1791T>A MANE Select	ENSP00000498074.1:p.Asn597Lys
ENST00000647981.1:n.476T>A
ENST00000650437.1:c.1282T>A
ENST00000360971.6:c.1791T>A	ENSP00000354238.2:p.Asn597Lys
ENST00000459624.1:n.835T>A
ENST00000513998.5:c.*628T>A	ENSP00000422424.1:n.*628T>A
NM_006208.2:c.1791T>A	NP_006199.2:p.Asn597Lys
XM_011535896.1:c.681T>A	XP_011534198.1:p.Asn227Lys
NM_006208.3:c.1791T>A MANE Select	NP_006199.2:p.Asn597Lys