Canonical Allele Identifier: CA2578743224
Gene: ENPP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890562T>C , CM000668.2:g.131890562T>C GRCh38
NC_000006.11:g.132211702T>C , CM000668.1:g.132211702T>C GRCh37
NC_000006.10:g.132253395T>C NCBI36
NG_008206.1:g.87547T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1260T>C
ENST00000647893.1:c.*51T>C MANE Select ENSP00000498074.1:n.*51T>C
ENST00000360971.6:c.*51T>C ENSP00000354238.2:n.*51T>C
ENST00000513998.5:c.*1666T>C ENSP00000422424.1:n.*1666T>C
NM_006208.2:c.*51T>C NP_006199.2:n.*51T>C
XM_011535896.1:c.*51T>C XP_011534198.1:n.*51T>C
NM_006208.3:c.*51T>C MANE Select NP_006199.2:n.*51T>C
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