Canonical Allele Identifier: CA200503
Gene: ENPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 193334
ClinVar RCV Id: RCV000173399 RCV001154492 RCV001154491 RCV001547684
dbSNP Id: rs750410843
ExAC: 6:132129166 C / T
gnomAD v2: 6-132129166-C-T
gnomAD v3: 6-131808026-C-T
gnomAD v4: 6-131808026-C-T
MyVariant Identifiers: chr6:g.132129166C>T (hg19) chr6:g.131808026C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131808026C>T , CM000668.2:g.131808026C>T GRCh38
NC_000006.11:g.132129166C>T , CM000668.1:g.132129166C>T GRCh37
NC_000006.10:g.132170859C>T NCBI36
NG_008206.1:g.5011C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.-10C>T MANE Select ENSP00000498074.1:n.-10C>T
ENST00000360971.6:c.-10C>T ENSP00000354238.2:n.-10C>T
ENST00000486853.1:n.11C>T
NM_006208.2:c.-10C>T NP_006199.2:n.-10C>T
NM_006208.3:c.-10C>T MANE Select NP_006199.2:n.-10C>T
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