Canonical Allele Identifier: CA365651816

Gene: ENPP1

Linked Data

• gnomAD v4: 6-131877006-A-T
• MyVariant Identifiers: chr6:g.132198146A>T (hg19) ; chr6:g.131877006A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877006A>T , CM000668.2:g.131877006A>T	GRCh38
NC_000006.11:g.132198146A>T , CM000668.1:g.132198146A>T	GRCh37
NC_000006.10:g.132239839A>T	NCBI36
NG_008206.1:g.73991A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683687.1:n.610A>T
ENST00000684536.1:n.236A>T
ENST00000647893.1:c.1738A>T MANE Select	ENSP00000498074.1:p.Thr580Ser
ENST00000647981.1:n.423A>T
ENST00000650437.1:c.1229A>T
ENST00000360971.6:c.1738A>T	ENSP00000354238.2:p.Thr580Ser
ENST00000459624.1:n.782A>T
ENST00000513998.5:c.*575A>T	ENSP00000422424.1:n.*575A>T
NM_006208.2:c.1738A>T	NP_006199.2:p.Thr580Ser
XM_011535896.1:c.628A>T	XP_011534198.1:p.Thr210Ser
NM_006208.3:c.1738A>T MANE Select	NP_006199.2:p.Thr580Ser