Canonical Allele Identifier: CA2205706

Gene: CAPN10

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240595042C>T , CM000664.2:g.240595042C>T	GRCh38
NC_000002.11:g.241534459C>T , CM000664.1:g.241534459C>T	GRCh37
NC_000002.10:g.241183132C>T	NCBI36
NG_011558.2:g.13327C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391984.7:c.1016C>T MANE Select	ENSP00000375844.2:p.Thr339Met
ENST00000270361.15:c.*180C>T	ENSP00000270361.11:n.*180C>T
ENST00000270364.11:c.273+5568C>T	ENSP00000270364.7:n.273+5568C>T
ENST00000352879.8:c.142-2846C>T	ENSP00000289381.6:n.142-2846C>T
ENST00000354082.8:c.1016C>T	ENSP00000270362.6:p.Thr339Met
ENST00000357048.8:c.1016C>T	ENSP00000349556.4:p.Thr339Met
ENST00000391983.7:c.1016C>T	ENSP00000375843.3:p.Thr339Met
ENST00000391984.6:c.1016C>T	ENSP00000375844.2:p.Thr339Met
ENST00000404753.7:c.1016C>T	ENSP00000384422.3:p.Thr339Met
ENST00000416591.5:c.1016C>T	ENSP00000400144.1:p.Thr339Met
ENST00000465943.1:n.488C>T
ENST00000494738.5:n.2595C>T
NM_023083.3:c.1016C>T	NP_075571.1:p.Thr339Met
NM_023085.3:c.1016C>T	NP_075573.2:p.Thr339Met
NM_023083.4:c.1016C>T MANE Select	NP_075571.2:p.Thr339Met
NM_023085.4:c.1016C>T	NP_075573.3:p.Thr339Met