Canonical Allele Identifier: CA365662262

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132172387A>T (hg19) ; chr6:g.131851247A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131851247A>T , CM000668.2:g.131851247A>T	GRCh38
NC_000006.11:g.132172387A>T , CM000668.1:g.132172387A>T	GRCh37
NC_000006.10:g.132214080A>T	NCBI36
NG_008206.1:g.48232A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647893.1:c.536A>T MANE Select	ENSP00000498074.1:p.Asn179Ile
ENST00000650147.1:c.214A>T
ENST00000650437.1:c.108+1141A>T
ENST00000360971.6:c.536A>T	ENSP00000354238.2:p.Asn179Ile
ENST00000486853.1:n.556A>T
ENST00000513998.5:c.536A>T	ENSP00000422424.1:p.Asn179Ile
NM_006208.2:c.536A>T	NP_006199.2:p.Asn179Ile
NM_006208.3:c.536A>T MANE Select	NP_006199.2:p.Asn179Ile