Canonical Allele Identifier: CA223930037

Gene: CAPN1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65183586T>C , CM000673.2:g.65183586T>C	GRCh38
NC_000011.9:g.64951057T>C , CM000673.1:g.64951057T>C	GRCh37
NC_000011.8:g.64707633T>C	NCBI36
NG_052817.1:g.7372T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279247.11:c.450T>C MANE Select	ENSP00000279247.7:p.His150=
ENST00000279247.10:c.450T>C	ENSP00000279247.6:p.His150=
ENST00000524773.5:c.450T>C	ENSP00000434176.1:p.His150=
ENST00000526468.1:c.135T>C	ENSP00000433366.1:p.His45=
ENST00000526954.5:c.450T>C	ENSP00000436002.1:p.His150=
ENST00000526966.5:c.450T>C	ENSP00000431528.1:p.His150=
ENST00000527189.5:n.464T>C
ENST00000527323.5:c.450T>C	ENSP00000431984.1:p.His150=
ENST00000527469.1:n.531T>C
ENST00000527699.5:c.450T>C	ENSP00000431172.1:p.His150=
ENST00000527739.5:c.450T>C	ENSP00000433823.1:p.His150=
ENST00000528396.5:c.450T>C	ENSP00000435847.1:p.His150=
ENST00000529133.5:c.450T>C	ENSP00000432512.1:p.His150=
ENST00000530442.5:n.495T>C
ENST00000533129.5:c.450T>C	ENSP00000431686.1:p.His150=
ENST00000533820.5:c.450T>C	ENSP00000435272.1:p.His150=
NM_001198868.1:c.450T>C	NP_001185797.1:p.His150=
NM_001198869.1:c.450T>C	NP_001185798.1:p.His150=
NM_005186.3:c.450T>C	NP_005177.2:p.His150=
NR_040008.1:n.562T>C
XM_006718698.1:c.450T>C	XP_006718761.1:p.His150=
XM_011545292.1:c.450T>C	XP_011543594.1:p.His150=
XM_006718698.2:c.450T>C	XP_006718761.1:p.His150=
NM_001198868.2:c.450T>C	NP_001185797.1:p.His150=
NM_005186.4:c.450T>C MANE Select	NP_005177.2:p.His150=
NR_040008.2:n.467T>C
NM_001198869.2:c.450T>C	NP_001185798.1:p.His150=