Canonical Allele Identifier: CA381243964

Gene: CAPN1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65186201G>T , CM000673.2:g.65186201G>T	GRCh38
NC_000011.9:g.64953672G>T , CM000673.1:g.64953672G>T	GRCh37
NC_000011.8:g.64710248G>T	NCBI36
NG_052817.1:g.9987G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279247.11:c.622G>T MANE Select	ENSP00000279247.7:p.Gly208Cys
ENST00000279247.10:c.622G>T	ENSP00000279247.6:p.Gly208Cys
ENST00000524773.5:c.622G>T	ENSP00000434176.1:p.Gly208Cys
ENST00000526468.1:c.307G>T	ENSP00000433366.1:p.Gly103Cys
ENST00000526954.5:c.590+151G>T	ENSP00000436002.1:n.590+151G>T
ENST00000527323.5:c.622G>T	ENSP00000431984.1:p.Gly208Cys
ENST00000527897.1:n.270G>T
ENST00000533129.5:c.622G>T	ENSP00000431686.1:p.Gly208Cys
ENST00000533820.5:c.622G>T	ENSP00000435272.1:p.Gly208Cys
NM_001198868.1:c.622G>T	NP_001185797.1:p.Gly208Cys
NM_001198869.1:c.622G>T	NP_001185798.1:p.Gly208Cys
NM_005186.3:c.622G>T	NP_005177.2:p.Gly208Cys
NR_040008.1:n.734G>T
XM_006718698.1:c.622G>T	XP_006718761.1:p.Gly208Cys
XM_011545292.1:c.622G>T	XP_011543594.1:p.Gly208Cys
XM_006718698.2:c.622G>T	XP_006718761.1:p.Gly208Cys
NM_001198868.2:c.622G>T	NP_001185797.1:p.Gly208Cys
NM_005186.4:c.622G>T MANE Select	NP_005177.2:p.Gly208Cys
NR_040008.2:n.639G>T
NM_001198869.2:c.622G>T	NP_001185798.1:p.Gly208Cys