Canonical Allele Identifier: CA365661487

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132211638G>T (hg19) ; chr6:g.131890498G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131890498G>T , CM000668.2:g.131890498G>T	GRCh38
NC_000006.11:g.132211638G>T , CM000668.1:g.132211638G>T	GRCh37
NC_000006.10:g.132253331G>T	NCBI36
NG_008206.1:g.87483G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684674.1:n.1196G>T
ENST00000647893.1:c.2765G>T MANE Select	ENSP00000498074.1:p.Ser922Ile
ENST00000360971.6:c.2765G>T	ENSP00000354238.2:p.Ser922Ile
ENST00000513998.5:c.*1602G>T	ENSP00000422424.1:n.*1602G>T
NM_006208.2:c.2765G>T	NP_006199.2:p.Ser922Ile
XM_011535896.1:c.1655G>T	XP_011534198.1:p.Ser552Ile
NM_006208.3:c.2765G>T MANE Select	NP_006199.2:p.Ser922Ile