Canonical Allele Identifier: CA6093107

Gene: CAPN1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65185943C>T , CM000673.2:g.65185943C>T	GRCh38
NC_000011.9:g.64953414C>T , CM000673.1:g.64953414C>T	GRCh37
NC_000011.8:g.64709990C>T	NCBI36
NG_052817.1:g.9729C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005186.4:c.483C>T MANE Select	NP_005177.2:p.Asp161=
ENST00000279247.11:c.483C>T MANE Select	ENSP00000279247.7:p.Asp161=
NM_001198868.1:c.483C>T	NP_001185797.1:p.Asp161=
NM_001198868.2:c.483C>T	NP_001185797.1:p.Asp161=
NM_001198869.1:c.483C>T	NP_001185798.1:p.Asp161=
NM_001198869.2:c.483C>T	NP_001185798.1:p.Asp161=
NM_005186.3:c.483C>T	NP_005177.2:p.Asp161=
NR_040008.1:n.595C>T
NR_040008.2:n.500C>T
ENST00000279247.10:c.483C>T	ENSP00000279247.6:p.Asp161=
ENST00000524773.5:c.483C>T	ENSP00000434176.1:p.Asp161=
ENST00000526468.1:c.168C>T	ENSP00000433366.1:p.Asp56=
ENST00000526954.5:c.483C>T	ENSP00000436002.1:p.Asp161=
ENST00000526966.5:c.483C>T	ENSP00000431528.1:p.Asp161=
ENST00000527189.5:n.497C>T
ENST00000527323.5:c.483C>T	ENSP00000431984.1:p.Asp161=
ENST00000527739.5:c.483C>T	ENSP00000433823.1:p.Asp161=
ENST00000527897.1:n.12C>T
ENST00000528396.5:c.483C>T	ENSP00000435847.1:p.Asp161=
ENST00000529133.5:c.483C>T	ENSP00000432512.1:p.Asp161=
ENST00000533129.5:c.483C>T	ENSP00000431686.1:p.Asp161=
ENST00000533820.5:c.483C>T	ENSP00000435272.1:p.Asp161=
XM_006718698.1:c.483C>T	XP_006718761.1:p.Asp161=
XM_006718698.2:c.483C>T	XP_006718761.1:p.Asp161=
XM_011545292.1:c.483C>T	XP_011543594.1:p.Asp161=