Canonical Allele Identifier: CA452161730
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1782454231
gnomAD v3: 6-131890469-A-G
gnomAD v4: 6-131890469-A-G
MyVariant Identifiers: chr6:g.132211609A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890469A>G , CM000668.2:g.131890469A>G GRCh38
NC_000006.11:g.132211609A>G , CM000668.1:g.132211609A>G GRCh37
NC_000006.10:g.132253302A>G NCBI36
NG_008206.1:g.87454A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1167A>G
ENST00000647893.1:c.2736A>G MANE Select ENSP00000498074.1:p.Leu912=
ENST00000360971.6:c.2736A>G ENSP00000354238.2:p.Leu912=
ENST00000513998.5:c.*1573A>G ENSP00000422424.1:n.*1573A>G
NM_006208.2:c.2736A>G NP_006199.2:p.Leu912=
XM_011535896.1:c.1626A>G XP_011534198.1:p.Leu542=
NM_006208.3:c.2736A>G MANE Select NP_006199.2:p.Leu912=
Search 100 bp 5'
Search 100 bp 3'