Canonical Allele Identifier: CA6093432

Gene: CAPN1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65206527G>T , CM000673.2:g.65206527G>T	GRCh38
NC_000011.9:g.64973998G>T , CM000673.1:g.64973998G>T	GRCh37
NC_000011.8:g.64730574G>T	NCBI36
NG_052817.1:g.30313G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005186.4:c.1418G>T MANE Select	NP_005177.2:p.Arg473Leu
ENST00000279247.11:c.1418G>T MANE Select	ENSP00000279247.7:p.Arg473Leu
NM_001198868.1:c.1418G>T	NP_001185797.1:p.Arg473Leu
NM_001198868.2:c.1418G>T	NP_001185797.1:p.Arg473Leu
NM_001198869.1:c.1418G>T	NP_001185798.1:p.Arg473Leu
NM_001198869.2:c.1418G>T	NP_001185798.1:p.Arg473Leu
NM_005186.3:c.1418G>T	NP_005177.2:p.Arg473Leu
NR_040008.1:n.1530G>T
NR_040008.2:n.1435G>T
ENST00000279247.10:c.1418G>T	ENSP00000279247.6:p.Arg473Leu
ENST00000524773.5:c.1418G>T	ENSP00000434176.1:p.Arg473Leu
ENST00000525013.1:n.271G>T
ENST00000527323.5:c.1418G>T	ENSP00000431984.1:p.Arg473Leu
ENST00000530495.1:n.430G>T
ENST00000533129.5:c.1418G>T	ENSP00000431686.1:p.Arg473Leu
ENST00000533820.5:c.1418G>T	ENSP00000435272.1:p.Arg473Leu
XM_006718698.1:c.1418G>T	XP_006718761.1:p.Arg473Leu
XM_006718698.2:c.1418G>T	XP_006718761.1:p.Arg473Leu
XM_011545292.1:c.1418G>T	XP_011543594.1:p.Arg473Leu