Canonical Allele Identifier: CA365659984
Gene: ENPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2991390
ClinVar RCV Id: RCV003850053
dbSNP Id: rs1782451970
MyVariant Identifiers: chr6:g.132211504G>A (hg19) chr6:g.131890364G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890364G>A , CM000668.2:g.131890364G>A GRCh38
NC_000006.11:g.132211504G>A , CM000668.1:g.132211504G>A GRCh37
NC_000006.10:g.132253197G>A NCBI36
NG_008206.1:g.87349G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1062G>A
ENST00000647893.1:c.2631G>A MANE Select ENSP00000498074.1:p.Trp877Ter
ENST00000360971.6:c.2631G>A ENSP00000354238.2:p.Trp877Ter
ENST00000513998.5:c.*1468G>A ENSP00000422424.1:n.*1468G>A
NM_006208.2:c.2631G>A NP_006199.2:p.Trp877Ter
XM_011535896.1:c.1521G>A XP_011534198.1:p.Trp507Ter
NM_006208.3:c.2631G>A MANE Select NP_006199.2:p.Trp877Ter
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