Canonical Allele Identifier: CA4002329
Gene: ENPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 355344
ClinVar RCV Id: RCV000299220 RCV000358813 RCV002487560 RCV002523547 RCV002520407
dbSNP Id: rs199890118
ExAC: 6:132198206 T / C
gnomAD v2: 6-132198206-T-C
gnomAD v3: 6-131877066-T-C
gnomAD v4: 6-131877066-T-C
MyVariant Identifiers: chr6:g.132198206T>C (hg19) chr6:g.131877066T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131877066T>C , CM000668.2:g.131877066T>C GRCh38
NC_000006.11:g.132198206T>C , CM000668.1:g.132198206T>C GRCh37
NC_000006.10:g.132239899T>C NCBI36
NG_008206.1:g.74051T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000683687.1:n.670T>C
ENST00000684536.1:n.296T>C
ENST00000647893.1:c.1798T>C MANE Select ENSP00000498074.1:p.Tyr600His
ENST00000647981.1:n.483T>C
ENST00000650437.1:c.1289T>C
ENST00000360971.6:c.1798T>C ENSP00000354238.2:p.Tyr600His
ENST00000459624.1:n.842T>C
ENST00000513998.5:c.*635T>C ENSP00000422424.1:n.*635T>C
NM_006208.2:c.1798T>C NP_006199.2:p.Tyr600His
XM_011535896.1:c.688T>C XP_011534198.1:p.Tyr230His
NM_006208.3:c.1798T>C MANE Select NP_006199.2:p.Tyr600His
Search 100 bp 5'
Search 100 bp 3'