Canonical Allele Identifier: CA147908722
Gene: ENPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3059279
ClinVar RCV Id: RCV004542537
dbSNP Id: rs955448760
gnomAD v2: 6-132211657-T-C
gnomAD v3: 6-131890517-T-C
gnomAD v4: 6-131890517-T-C
MyVariant Identifiers: chr6:g.132211657T>C (hg19) chr6:g.131890517T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890517T>C , CM000668.2:g.131890517T>C GRCh38
NC_000006.11:g.132211657T>C , CM000668.1:g.132211657T>C GRCh37
NC_000006.10:g.132253350T>C NCBI36
NG_008206.1:g.87502T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1215T>C
ENST00000647893.1:c.*6T>C MANE Select ENSP00000498074.1:n.*6T>C
ENST00000360971.6:c.*6T>C ENSP00000354238.2:n.*6T>C
ENST00000513998.5:c.*1621T>C ENSP00000422424.1:n.*1621T>C
NM_006208.2:c.*6T>C NP_006199.2:n.*6T>C
XM_011535896.1:c.*6T>C XP_011534198.1:n.*6T>C
NM_006208.3:c.*6T>C MANE Select NP_006199.2:n.*6T>C
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