Canonical Allele Identifier: CA365661374
Gene: ENPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.132211625T>G (hg19) chr6:g.131890485T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890485T>G , CM000668.2:g.131890485T>G GRCh38
NC_000006.11:g.132211625T>G , CM000668.1:g.132211625T>G GRCh37
NC_000006.10:g.132253318T>G NCBI36
NG_008206.1:g.87470T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1183T>G
ENST00000647893.1:c.2752T>G MANE Select ENSP00000498074.1:p.Leu918Val
ENST00000360971.6:c.2752T>G ENSP00000354238.2:p.Leu918Val
ENST00000513998.5:c.*1589T>G ENSP00000422424.1:n.*1589T>G
NM_006208.2:c.2752T>G NP_006199.2:p.Leu918Val
XM_011535896.1:c.1642T>G XP_011534198.1:p.Leu548Val
NM_006208.3:c.2752T>G MANE Select NP_006199.2:p.Leu918Val
Search 100 bp 5'
Search 100 bp 3'