Canonical Allele Identifier: CA391998797

Gene: CAPN3

Linked Data

• MyVariant Identifiers: chr15:g.42684866A>C (hg19) ; chr15:g.42392668A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42392668A>C , CM000677.2:g.42392668A>C	GRCh38
NC_000015.9:g.42684866A>C , CM000677.1:g.42684866A>C	GRCh37
NC_000015.8:g.40472158A>C	NCBI36
NG_008660.1:g.49566A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.831A>C	ENSP00000183936.4:p.Arg277Ser
ENST00000357568.8:c.975A>C	ENSP00000350181.3:p.Arg325Ser
ENST00000397163.8:c.975A>C MANE Select	ENSP00000380349.3:p.Arg325Ser
ENST00000466369.5:n.1484A>C
ENST00000483208.5:n.1206A>C
ENST00000495723.1:n.1206A>C
ENST00000549793.5:n.1206A>C
ENST00000638141.2:n.846A>C
ENST00000673705.1:c.71-4132A>C	ENSP00000501021.1:n.71-4132A>C
ENST00000318023.11:c.831A>C	ENSP00000326281.8:p.Arg277Ser
ENST00000349748.7:c.831A>C	ENSP00000183936.4:p.Arg277Ser
ENST00000357568.7:c.975A>C	ENSP00000350181.3:p.Arg325Ser
ENST00000397163.7:c.975A>C	ENSP00000380349.3:p.Arg325Ser
NM_000070.2:c.975A>C	NP_000061.1:p.Arg325Ser
NM_024344.1:c.975A>C	NP_077320.1:p.Arg325Ser
NM_173087.1:c.831A>C	NP_775110.1:p.Arg277Ser
NM_000070.3:c.975A>C MANE Select	NP_000061.1:p.Arg325Ser
NM_024344.2:c.975A>C	NP_077320.1:p.Arg325Ser
NM_173087.2:c.831A>C	NP_775110.1:p.Arg277Ser