Canonical Allele Identifier: CA4001909
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs762873229
ExAC: 6:132172285 A / G
gnomAD v2: 6-132172285-A-G
gnomAD v4: 6-131851145-A-G
MyVariant Identifiers: chr6:g.132172285A>G (hg19) chr6:g.131851145A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851145A>G , CM000668.2:g.131851145A>G GRCh38
NC_000006.11:g.132172285A>G , CM000668.1:g.132172285A>G GRCh37
NC_000006.10:g.132213978A>G NCBI36
NG_008206.1:g.48130A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647893.1:c.434A>G MANE Select ENSP00000498074.1:p.His145Arg
ENST00000650147.1:c.112A>G
ENST00000650437.1:c.108+1039A>G
ENST00000360971.6:c.434A>G ENSP00000354238.2:p.His145Arg
ENST00000486853.1:n.454A>G
ENST00000513998.5:c.434A>G ENSP00000422424.1:p.His145Arg
NM_006208.2:c.434A>G NP_006199.2:p.His145Arg
NM_006208.3:c.434A>G MANE Select NP_006199.2:p.His145Arg
Search 100 bp 5'
Search 100 bp 3'