Canonical Allele Identifier: CA365652608

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132198294A>T (hg19) ; chr6:g.131877154A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877154A>T , CM000668.2:g.131877154A>T	GRCh38
NC_000006.11:g.132198294A>T , CM000668.1:g.132198294A>T	GRCh37
NC_000006.10:g.132239987A>T	NCBI36
NG_008206.1:g.74139A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683687.1:n.758A>T
ENST00000684536.1:n.384A>T
ENST00000647893.1:c.1886A>T MANE Select	ENSP00000498074.1:p.Asn629Ile
ENST00000647981.1:n.571A>T
ENST00000650437.1:c.1377A>T
ENST00000360971.6:c.1886A>T	ENSP00000354238.2:p.Asn629Ile
ENST00000459624.1:n.930A>T
ENST00000513998.5:c.*723A>T	ENSP00000422424.1:n.*723A>T
NM_006208.2:c.1886A>T	NP_006199.2:p.Asn629Ile
XM_011535896.1:c.776A>T	XP_011534198.1:p.Asn259Ile
NM_006208.3:c.1886A>T MANE Select	NP_006199.2:p.Asn629Ile