Canonical Allele Identifier: CA452157099

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132198148A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877008A>G , CM000668.2:g.131877008A>G	GRCh38
NC_000006.11:g.132198148A>G , CM000668.1:g.132198148A>G	GRCh37
NC_000006.10:g.132239841A>G	NCBI36
NG_008206.1:g.73993A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683687.1:n.612A>G
ENST00000684536.1:n.238A>G
ENST00000647893.1:c.1740A>G MANE Select	ENSP00000498074.1:p.Thr580=
ENST00000647981.1:n.425A>G
ENST00000650437.1:c.1231A>G
ENST00000360971.6:c.1740A>G	ENSP00000354238.2:p.Thr580=
ENST00000459624.1:n.784A>G
ENST00000513998.5:c.*577A>G	ENSP00000422424.1:n.*577A>G
NM_006208.2:c.1740A>G	NP_006199.2:p.Thr580=
XM_011535896.1:c.630A>G	XP_011534198.1:p.Thr210=
NM_006208.3:c.1740A>G MANE Select	NP_006199.2:p.Thr580=