Canonical Allele Identifier: CA12249628
Gene: ENPP1 HGNC NCBI
SELENOKP2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.131819872C>T
GRCh37 chr6:g.132141012C>T
gnomAD v2:
6:132141012 C / T
gnomAD v3:
6:131819872 C / T
gnomAD v4:
chr6-131819872-C-T
Joint Max Group AF 0.81189568 (EAS)
Genomes Max Group AF 0.80020083 (EAS)
Exomes Max Group AF 0.81072689 (EAS)
dbSNP:
943003
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131819872C>T , CM000668.2:g.131819872C>T GRCh38
NC_000006.11:g.132141012C>T , CM000668.1:g.132141012C>T GRCh37
NC_000006.10:g.132182705C>T NCBI36
NG_008206.1:g.16857C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.240+11597C>T (ENPP1) MANE Select ENSP00000498074.1:n.240+11597C>T
ENST00000650507.1:c.154-6150C>T (ENPP1) ENSP00000497375.1:n.154-6150C>T
ENST00000360971.6:c.240+11597C>T (ENPP1) ENSP00000354238.2:n.240+11597C>T
ENST00000407837.2:n.220G>A (SELENOKP2)
ENST00000486853.1:n.260+11597C>T (ENPP1)
ENST00000513998.5:c.240+11597C>T (ENPP1) ENSP00000422424.1:n.240+11597C>T
NM_006208.2:c.240+11597C>T (ENPP1) NP_006199.2:n.240+11597C>T
NM_006208.3:c.240+11597C>T (ENPP1) MANE Select NP_006199.2:n.240+11597C>T
Search 100 bp 5'
Search 100 bp 3'