Canonical Allele Identifier: CA391999115

Gene: CAPN3

Linked Data - Predicted Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42396802G>C , CM000677.2:g.42396802G>C	GRCh38
NC_000015.9:g.42689000G>C , CM000677.1:g.42689000G>C	GRCh37
NC_000015.8:g.40476292G>C	NCBI36
NG_008660.1:g.53700G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.974G>C	ENSP00000183936.4:p.Trp325Ser
ENST00000357568.8:c.1118G>C	ENSP00000350181.3:p.Trp373Ser
ENST00000397163.8:c.1118G>C MANE Select	ENSP00000380349.3:p.Trp373Ser
ENST00000466369.5:n.1627G>C
ENST00000483208.5:n.1349G>C
ENST00000495723.1:n.1349G>C
ENST00000549793.5:n.1349G>C
ENST00000638141.2:n.989G>C
ENST00000673658.1:n.102G>C
ENST00000673705.1:c.73G>C	ENSP00000501021.1:p.Gly25Arg
ENST00000318023.11:c.974G>C	ENSP00000326281.8:p.Trp325Ser
ENST00000349748.7:c.974G>C	ENSP00000183936.4:p.Trp325Ser
ENST00000357568.7:c.1118G>C	ENSP00000350181.3:p.Trp373Ser
ENST00000397163.7:c.1118G>C	ENSP00000380349.3:p.Trp373Ser
NM_000070.2:c.1118G>C	NP_000061.1:p.Trp373Ser
NM_024344.1:c.1118G>C	NP_077320.1:p.Trp373Ser
NM_173087.1:c.974G>C	NP_775110.1:p.Trp325Ser
NM_000070.3:c.1118G>C MANE Select	NP_000061.1:p.Trp373Ser
NM_024344.2:c.1118G>C	NP_077320.1:p.Trp373Ser
NM_173087.2:c.974G>C	NP_775110.1:p.Trp325Ser