Canonical Allele Identifier: CA365651818

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132198147C>A (hg19) ; chr6:g.131877007C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877007C>A , CM000668.2:g.131877007C>A	GRCh38
NC_000006.11:g.132198147C>A , CM000668.1:g.132198147C>A	GRCh37
NC_000006.10:g.132239840C>A	NCBI36
NG_008206.1:g.73992C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683687.1:n.611C>A
ENST00000684536.1:n.237C>A
ENST00000647893.1:c.1739C>A MANE Select	ENSP00000498074.1:p.Thr580Lys
ENST00000647981.1:n.424C>A
ENST00000650437.1:c.1230C>A
ENST00000360971.6:c.1739C>A	ENSP00000354238.2:p.Thr580Lys
ENST00000459624.1:n.783C>A
ENST00000513998.5:c.*576C>A	ENSP00000422424.1:n.*576C>A
NM_006208.2:c.1739C>A	NP_006199.2:p.Thr580Lys
XM_011535896.1:c.629C>A	XP_011534198.1:p.Thr210Lys
NM_006208.3:c.1739C>A MANE Select	NP_006199.2:p.Thr580Lys