Canonical Allele Identifier: CA2560069247
Gene: ENPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890603C>T , CM000668.2:g.131890603C>T GRCh38
NC_000006.11:g.132211743C>T , CM000668.1:g.132211743C>T GRCh37
NC_000006.10:g.132253436C>T NCBI36
NG_008206.1:g.87588C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1301C>T
ENST00000647893.1:c.*92C>T MANE Select ENSP00000498074.1:n.*92C>T
ENST00000360971.6:c.*92C>T ENSP00000354238.2:n.*92C>T
ENST00000513998.5:c.*1707C>T ENSP00000422424.1:n.*1707C>T
NM_006208.2:c.*92C>T NP_006199.2:n.*92C>T
XM_011535896.1:c.*92C>T XP_011534198.1:n.*92C>T
NM_006208.3:c.*92C>T MANE Select NP_006199.2:n.*92C>T