Canonical Allele Identifier: CA452157100

Gene: ENPP1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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