Canonical Allele Identifier: CA381243440

Gene: CAPN1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65186014A>G , CM000673.2:g.65186014A>G	GRCh38
NC_000011.9:g.64953485A>G , CM000673.1:g.64953485A>G	GRCh37
NC_000011.8:g.64710061A>G	NCBI36
NG_052817.1:g.9800A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005186.4:c.554A>G MANE Select	NP_005177.2:p.Glu185Gly
ENST00000279247.11:c.554A>G MANE Select	ENSP00000279247.7:p.Glu185Gly
NM_001198868.1:c.554A>G	NP_001185797.1:p.Glu185Gly
NM_001198868.2:c.554A>G	NP_001185797.1:p.Glu185Gly
NM_001198869.1:c.554A>G	NP_001185798.1:p.Glu185Gly
NM_001198869.2:c.554A>G	NP_001185798.1:p.Glu185Gly
NM_005186.3:c.554A>G	NP_005177.2:p.Glu185Gly
NR_040008.1:n.666A>G
NR_040008.2:n.571A>G
ENST00000279247.10:c.554A>G	ENSP00000279247.6:p.Glu185Gly
ENST00000524773.5:c.554A>G	ENSP00000434176.1:p.Glu185Gly
ENST00000526468.1:c.239A>G	ENSP00000433366.1:p.Glu80Gly
ENST00000526954.5:c.554A>G	ENSP00000436002.1:p.Glu185Gly
ENST00000527323.5:c.554A>G	ENSP00000431984.1:p.Glu185Gly
ENST00000527897.1:n.83A>G
ENST00000529133.5:c.554A>G	ENSP00000432512.1:p.Glu185Gly
ENST00000533129.5:c.554A>G	ENSP00000431686.1:p.Glu185Gly
ENST00000533820.5:c.554A>G	ENSP00000435272.1:p.Glu185Gly
XM_006718698.1:c.554A>G	XP_006718761.1:p.Glu185Gly
XM_006718698.2:c.554A>G	XP_006718761.1:p.Glu185Gly
XM_011545292.1:c.554A>G	XP_011543594.1:p.Glu185Gly