Canonical Allele Identifier: CA2773093507
Gene: ENPP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851559T>C , CM000668.2:g.131851559T>C GRCh38
NC_000006.11:g.132172699T>C , CM000668.1:g.132172699T>C GRCh37
NC_000006.10:g.132214392T>C NCBI36
NG_008206.1:g.48544T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.556+292T>C MANE Select ENSP00000498074.1:n.556+292T>C
ENST00000650147.1:c.234+292T>C
ENST00000650437.1:c.108+1453T>C
ENST00000360971.6:c.556+292T>C ENSP00000354238.2:n.556+292T>C
ENST00000513998.5:c.556+292T>C ENSP00000422424.1:n.556+292T>C
NM_006208.2:c.556+292T>C NP_006199.2:n.556+292T>C
NM_006208.3:c.556+292T>C MANE Select NP_006199.2:n.556+292T>C
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