Canonical Allele Identifier: CA147912012
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs907193582
gnomAD v3: 6-131832744-T-C
gnomAD v4: 6-131832744-T-C
MyVariant Identifiers: chr6:g.132153884T>C (hg19) chr6:g.131832744T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131832744T>C , CM000668.2:g.131832744T>C GRCh38
NC_000006.11:g.132153884T>C , CM000668.1:g.132153884T>C GRCh37
NC_000006.10:g.132195577T>C NCBI36
NG_008206.1:g.29729T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647893.1:c.241-15032T>C MANE Select ENSP00000498074.1:n.241-15032T>C
ENST00000650507.1:c.247+6629T>C ENSP00000497375.1:n.247+6629T>C
ENST00000360971.6:c.241-15032T>C ENSP00000354238.2:n.241-15032T>C
ENST00000486853.1:n.261-15032T>C
ENST00000513998.5:c.241-15032T>C ENSP00000422424.1:n.241-15032T>C
NM_006208.2:c.241-15032T>C NP_006199.2:n.241-15032T>C
NM_006208.3:c.241-15032T>C MANE Select NP_006199.2:n.241-15032T>C
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