Canonical Allele Identifier: CA147926773
Gene: ENPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1285796
ClinVar RCV Id: RCV001708090
dbSNP Id: rs114676646
gnomAD v2: 6-132172643-C-T
gnomAD v3: 6-131851503-C-T
gnomAD v4: 6-131851503-C-T
MyVariant Identifiers: chr6:g.132172643C>T (hg19) chr6:g.131851503C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851503C>T , CM000668.2:g.131851503C>T GRCh38
NC_000006.11:g.132172643C>T , CM000668.1:g.132172643C>T GRCh37
NC_000006.10:g.132214336C>T NCBI36
NG_008206.1:g.48488C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.556+236C>T MANE Select ENSP00000498074.1:n.556+236C>T
ENST00000650147.1:c.234+236C>T
ENST00000650437.1:c.108+1397C>T
ENST00000360971.6:c.556+236C>T ENSP00000354238.2:n.556+236C>T
ENST00000513998.5:c.556+236C>T ENSP00000422424.1:n.556+236C>T
NM_006208.2:c.556+236C>T NP_006199.2:n.556+236C>T
NM_006208.3:c.556+236C>T MANE Select NP_006199.2:n.556+236C>T
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