Canonical Allele Identifier: CA269841797

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42396846C>T , CM000677.2:g.42396846C>T	GRCh38
NC_000015.9:g.42689044C>T , CM000677.1:g.42689044C>T	GRCh37
NC_000015.8:g.40476336C>T	NCBI36
NG_008660.1:g.53744C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000070.3:c.1162C>T MANE Select	NP_000061.1:p.Gln388Ter
ENST00000397163.8:c.1162C>T MANE Select	ENSP00000380349.3:p.Gln388Ter
NM_000070.2:c.1162C>T	NP_000061.1:p.Gln388Ter
NM_024344.1:c.1162C>T	NP_077320.1:p.Gln388Ter
NM_024344.2:c.1162C>T	NP_077320.1:p.Gln388Ter
NM_173087.1:c.1018C>T	NP_775110.1:p.Gln340Ter
NM_173087.2:c.1018C>T	NP_775110.1:p.Gln340Ter
ENST00000318023.11:c.1018C>T	ENSP00000326281.8:p.Gln340Ter
ENST00000349748.7:c.1018C>T	ENSP00000183936.4:p.Gln340Ter
ENST00000349748.8:c.1018C>T	ENSP00000183936.4:p.Gln340Ter
ENST00000357568.7:c.1162C>T	ENSP00000350181.3:p.Gln388Ter
ENST00000357568.8:c.1162C>T	ENSP00000350181.3:p.Gln388Ter
ENST00000397163.7:c.1162C>T	ENSP00000380349.3:p.Gln388Ter
ENST00000466369.5:n.1671C>T
ENST00000483208.5:n.1393C>T
ENST00000495723.1:n.1393C>T
ENST00000549793.5:n.1393C>T
ENST00000638141.2:n.1033C>T
ENST00000673658.1:n.146C>T
ENST00000673705.1:c.117C>T	ENSP00000501021.1:p.Cys39=