Canonical Allele Identifier: CA147922546
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1014443695
gnomAD v2: 6-132168092-A-G
gnomAD v3: 6-131846952-A-G
gnomAD v4: 6-131846952-A-G
MyVariant Identifiers: chr6:g.132168092A>G (hg19) chr6:g.131846952A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131846952A>G , CM000668.2:g.131846952A>G GRCh38
NC_000006.11:g.132168092A>G , CM000668.1:g.132168092A>G GRCh37
NC_000006.10:g.132209785A>G NCBI36
NG_008206.1:g.43937A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000684147.1:n.519-824A>G
ENST00000647893.1:c.241-824A>G MANE Select ENSP00000498074.1:n.241-824A>G
ENST00000650507.1:c.248-824A>G ENSP00000497375.1:n.248-824A>G
ENST00000360971.6:c.241-824A>G ENSP00000354238.2:n.241-824A>G
ENST00000486853.1:n.261-824A>G
ENST00000513998.5:c.241-824A>G ENSP00000422424.1:n.241-824A>G
NM_006208.2:c.241-824A>G NP_006199.2:n.241-824A>G
NM_006208.3:c.241-824A>G MANE Select NP_006199.2:n.241-824A>G
Search 100 bp 5'
Search 100 bp 3'