Canonical Allele Identifier: CA4001939
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs781127790
ExAC: 6:132172432 G / A
gnomAD v2: 6-132172432-G-A
MyVariant Identifiers: chr6:g.132172432G>A (hg19) chr6:g.131851292G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851292G>A , CM000668.2:g.131851292G>A GRCh38
NC_000006.11:g.132172432G>A , CM000668.1:g.132172432G>A GRCh37
NC_000006.10:g.132214125G>A NCBI36
NG_008206.1:g.48277G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.556+25G>A MANE Select ENSP00000498074.1:n.556+25G>A
ENST00000650147.1:c.234+25G>A
ENST00000650437.1:c.108+1186G>A
ENST00000360971.6:c.556+25G>A ENSP00000354238.2:n.556+25G>A
ENST00000486853.1:n.601G>A
ENST00000513998.5:c.556+25G>A ENSP00000422424.1:n.556+25G>A
NM_006208.2:c.556+25G>A NP_006199.2:n.556+25G>A
NM_006208.3:c.556+25G>A MANE Select NP_006199.2:n.556+25G>A
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