Canonical Allele Identifier: CA365662253
Gene: ENPP1 HGNC NCBI

Linked Data

gnomAD v4: 6-131851246-A-G
MyVariant Identifiers: chr6:g.132172386A>G (hg19) chr6:g.131851246A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851246A>G , CM000668.2:g.131851246A>G GRCh38
NC_000006.11:g.132172386A>G , CM000668.1:g.132172386A>G GRCh37
NC_000006.10:g.132214079A>G NCBI36
NG_008206.1:g.48231A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647893.1:c.535A>G MANE Select ENSP00000498074.1:p.Asn179Asp
ENST00000650147.1:c.213A>G
ENST00000650437.1:c.108+1140A>G
ENST00000360971.6:c.535A>G ENSP00000354238.2:p.Asn179Asp
ENST00000486853.1:n.555A>G
ENST00000513998.5:c.535A>G ENSP00000422424.1:p.Asn179Asp
NM_006208.2:c.535A>G NP_006199.2:p.Asn179Asp
NM_006208.3:c.535A>G MANE Select NP_006199.2:p.Asn179Asp
Search 100 bp 5'
Search 100 bp 3'