Canonical Allele Identifier: CA365661507
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1782454731
MyVariant Identifiers: chr6:g.132211638G>C (hg19) chr6:g.131890498G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890498G>C , CM000668.2:g.131890498G>C GRCh38
NC_000006.11:g.132211638G>C , CM000668.1:g.132211638G>C GRCh37
NC_000006.10:g.132253331G>C NCBI36
NG_008206.1:g.87483G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1196G>C
ENST00000647893.1:c.2765G>C MANE Select ENSP00000498074.1:p.Ser922Thr
ENST00000360971.6:c.2765G>C ENSP00000354238.2:p.Ser922Thr
ENST00000513998.5:c.*1602G>C ENSP00000422424.1:n.*1602G>C
NM_006208.2:c.2765G>C NP_006199.2:p.Ser922Thr
XM_011535896.1:c.1655G>C XP_011534198.1:p.Ser552Thr
NM_006208.3:c.2765G>C MANE Select NP_006199.2:p.Ser922Thr
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