Canonical Allele Identifier: CA2205457
Gene: CAPN10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240590920C>T , CM000664.2:g.240590920C>T GRCh38
NC_000002.11:g.241530337C>T , CM000664.1:g.241530337C>T GRCh37
NC_000002.10:g.241179010C>T NCBI36
NG_011558.2:g.9205C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000391984.7:c.379C>T MANE Select ENSP00000375844.2:p.Arg127Cys
ENST00000270361.15:c.379C>T ENSP00000270361.11:p.Arg127Cys
ENST00000270364.11:c.273+1446C>T ENSP00000270364.7:n.273+1446C>T
ENST00000352879.8:c.141+3868C>T ENSP00000289381.6:n.141+3868C>T
ENST00000354082.8:c.379C>T ENSP00000270362.6:p.Arg127Cys
ENST00000357048.8:c.379C>T ENSP00000349556.4:p.Arg127Cys
ENST00000391983.7:c.379C>T ENSP00000375843.3:p.Arg127Cys
ENST00000391984.6:c.379C>T ENSP00000375844.2:p.Arg127Cys
ENST00000404753.7:c.379C>T ENSP00000384422.3:p.Arg127Cys
ENST00000416591.5:c.379C>T ENSP00000400144.1:p.Arg127Cys
ENST00000494738.5:n.1037C>T
NM_023083.3:c.379C>T NP_075571.1:p.Arg127Cys
NM_023085.3:c.379C>T NP_075573.2:p.Arg127Cys
NM_023083.4:c.379C>T MANE Select NP_075571.2:p.Arg127Cys
NM_023085.4:c.379C>T NP_075573.3:p.Arg127Cys