Canonical Allele Identifier: CA1339195235

Gene: CAPN10

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240598657A= , CM000664.2:g.240598657A=	GRCh38
NC_000002.11:g.241538074A= , CM000664.1:g.241538074A=	GRCh37
NC_000002.10:g.241186747A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_023083.4:c.1996A= MANE Select	NP_075571.2:p.Ile666=
ENST00000391984.7:c.1996A= MANE Select	ENSP00000375844.2:p.Ile666=
NM_023085.4:c.1531A=	NP_075573.3:p.Ile511=
ENST00000270361.15:c.*1160A=	ENSP00000270361.11:n.*1160A=
ENST00000270364.11:c.273+9183A=	ENSP00000270364.7:n.273+9183A=
ENST00000352879.8:c.394A=	ENSP00000289381.6:p.Ile132=
ENST00000354082.8:c.1531A=	ENSP00000270362.6:p.Ile511=
ENST00000357048.8:c.*192A=	ENSP00000349556.4:n.*192A=
ENST00000391983.7:c.*192A=	ENSP00000375843.3:n.*192A=
ENST00000391984.6:c.1996A=	ENSP00000375844.2:p.Ile666=
ENST00000404753.7:c.1950A=	ENSP00000384422.3:p.Pro650=
ENST00000416591.5:c.*711A=	ENSP00000400144.1:n.*711A=
ENST00000426297.1:c.117A=
ENST00000494738.5:n.3960A=