Canonical Allele Identifier: CA4001908
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs773174078
ExAC: 6:132172280 A / G
gnomAD v2: 6-132172280-A-G
gnomAD v3: 6-131851140-A-G
gnomAD v4: 6-131851140-A-G
MyVariant Identifiers: chr6:g.132172280A>G (hg19) chr6:g.131851140A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851140A>G , CM000668.2:g.131851140A>G GRCh38
NC_000006.11:g.132172280A>G , CM000668.1:g.132172280A>G GRCh37
NC_000006.10:g.132213973A>G NCBI36
NG_008206.1:g.48125A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647893.1:c.431-2A>G MANE Select ENSP00000498074.1:n.431-2A>G
ENST00000650147.1:c.109-2A>G
ENST00000650437.1:c.108+1034A>G
ENST00000360971.6:c.431-2A>G ENSP00000354238.2:n.431-2A>G
ENST00000486853.1:n.451-2A>G
ENST00000513998.5:c.431-2A>G ENSP00000422424.1:n.431-2A>G
NM_006208.2:c.431-2A>G NP_006199.2:n.431-2A>G
NM_006208.3:c.431-2A>G MANE Select NP_006199.2:n.431-2A>G
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