Canonical Allele Identifier: CA10625936
Gene: ENPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 355357
ClinVar RCV Id: RCV000288106 RCV000404885 RCV001636982
dbSNP Id: rs1044548
gnomAD v2: 6-132211763-G-A
gnomAD v3: 6-131890623-G-A
gnomAD v4: 6-131890623-G-A
MyVariant Identifiers: chr6:g.132211763G>A (hg19) chr6:g.131890623G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890623G>A , CM000668.2:g.131890623G>A GRCh38
NC_000006.11:g.132211763G>A , CM000668.1:g.132211763G>A GRCh37
NC_000006.10:g.132253456G>A NCBI36
NG_008206.1:g.87608G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1321G>A
ENST00000647893.1:c.*112G>A MANE Select ENSP00000498074.1:n.*112G>A
ENST00000360971.6:c.*112G>A ENSP00000354238.2:n.*112G>A
ENST00000513998.5:c.*1727G>A ENSP00000422424.1:n.*1727G>A
NM_006208.2:c.*112G>A NP_006199.2:n.*112G>A
XM_011535896.1:c.*112G>A XP_011534198.1:n.*112G>A
NM_006208.3:c.*112G>A MANE Select NP_006199.2:n.*112G>A
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