Canonical Allele Identifier: CA2205890

Gene: CAPN10

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240596709A>G , CM000664.2:g.240596709A>G	GRCh38
NC_000002.11:g.241536126A>G , CM000664.1:g.241536126A>G	GRCh37
NC_000002.10:g.241184799A>G	NCBI36
NG_011558.2:g.14994A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_023083.4:c.1510A>G MANE Select	NP_075571.2:p.Thr504Ala
ENST00000391984.7:c.1510A>G MANE Select	ENSP00000375844.2:p.Thr504Ala
NM_023083.3:c.1510A>G	NP_075571.1:p.Thr504Ala
NM_023085.3:c.1279-1179A>G	NP_075573.2:n.1279-1179A>G
NM_023085.4:c.1279-1179A>G	NP_075573.3:n.1279-1179A>G
ENST00000270361.15:c.*674A>G	ENSP00000270361.11:n.*674A>G
ENST00000270364.11:c.273+7235A>G	ENSP00000270364.7:n.273+7235A>G
ENST00000352879.8:c.142-1179A>G	ENSP00000289381.6:n.142-1179A>G
ENST00000354082.8:c.1279-1179A>G	ENSP00000270362.6:n.1279-1179A>G
ENST00000357048.8:c.1481+188A>G	ENSP00000349556.4:n.1481+188A>G
ENST00000391983.7:c.1482-141A>G	ENSP00000375843.3:n.1482-141A>G
ENST00000391984.6:c.1510A>G	ENSP00000375844.2:p.Thr504Ala
ENST00000404753.7:c.1510A>G	ENSP00000384422.3:p.Thr504Ala
ENST00000416591.5:c.*366-141A>G	ENSP00000400144.1:n.*366-141A>G
ENST00000493058.1:n.659+188A>G
ENST00000494738.5:n.3474A>G