Canonical Allele Identifier: CA475170726

Gene: CAPN1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65182875T>C , CM000673.2:g.65182875T>C	GRCh38
NC_000011.9:g.64950346T>C , CM000673.1:g.64950346T>C	GRCh37
NC_000011.8:g.64706922T>C	NCBI36
NG_052817.1:g.6661T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279247.11:c.174T>C MANE Select	ENSP00000279247.7:p.Asp58=
ENST00000279247.10:c.174T>C	ENSP00000279247.6:p.Asp58=
ENST00000524773.5:c.174T>C	ENSP00000434176.1:p.Asp58=
ENST00000526954.5:c.174T>C	ENSP00000436002.1:p.Asp58=
ENST00000526966.5:c.174T>C	ENSP00000431528.1:p.Asp58=
ENST00000527189.5:n.258T>C
ENST00000527323.5:c.174T>C	ENSP00000431984.1:p.Asp58=
ENST00000527469.1:n.255T>C
ENST00000527699.5:c.174T>C	ENSP00000431172.1:p.Asp58=
ENST00000527739.5:c.174T>C	ENSP00000433823.1:p.Asp58=
ENST00000528396.5:c.174T>C	ENSP00000435847.1:p.Asp58=
ENST00000528739.5:n.96-27T>C
ENST00000529133.5:c.174T>C	ENSP00000432512.1:p.Asp58=
ENST00000530442.5:n.219T>C
ENST00000531068.5:c.174T>C	ENSP00000435092.1:p.Asp58=
ENST00000532285.1:c.174T>C	ENSP00000436693.1:p.Asp58=
ENST00000533129.5:c.174T>C	ENSP00000431686.1:p.Asp58=
ENST00000533820.5:c.174T>C	ENSP00000435272.1:p.Asp58=
ENST00000533909.5:c.174T>C	ENSP00000435198.1:p.Asp58=
ENST00000534373.5:c.174T>C	ENSP00000431793.1:p.Asp58=
NM_001198868.1:c.174T>C	NP_001185797.1:p.Asp58=
NM_001198869.1:c.174T>C	NP_001185798.1:p.Asp58=
NM_005186.3:c.174T>C	NP_005177.2:p.Asp58=
NR_040008.1:n.356T>C
XM_006718698.1:c.174T>C	XP_006718761.1:p.Asp58=
XM_011545292.1:c.174T>C	XP_011543594.1:p.Asp58=
XM_006718698.2:c.174T>C	XP_006718761.1:p.Asp58=
NM_001198868.2:c.174T>C	NP_001185797.1:p.Asp58=
NM_005186.4:c.174T>C MANE Select	NP_005177.2:p.Asp58=
NR_040008.2:n.261T>C
NM_001198869.2:c.174T>C	NP_001185798.1:p.Asp58=