Canonical Allele Identifier: CA452161739
Gene: ENPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.132211627G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890487G>A , CM000668.2:g.131890487G>A GRCh38
NC_000006.11:g.132211627G>A , CM000668.1:g.132211627G>A GRCh37
NC_000006.10:g.132253320G>A NCBI36
NG_008206.1:g.87472G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1185G>A
ENST00000647893.1:c.2754G>A MANE Select ENSP00000498074.1:p.Leu918=
ENST00000360971.6:c.2754G>A ENSP00000354238.2:p.Leu918=
ENST00000513998.5:c.*1591G>A ENSP00000422424.1:n.*1591G>A
NM_006208.2:c.2754G>A NP_006199.2:p.Leu918=
XM_011535896.1:c.1644G>A XP_011534198.1:p.Leu548=
NM_006208.3:c.2754G>A MANE Select NP_006199.2:p.Leu918=
Search 100 bp 5'
Search 100 bp 3'