Canonical Allele Identifier: CA10606813

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 290547
• ClinVar RCV Id: RCV000370228 ; RCV003517180
• dbSNP Id: rs886044483
• MyVariant Identifiers: chr15:g.42695161T>C (hg19) ; chr15:g.42402963T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402963T>C , CM000677.2:g.42402963T>C	GRCh38
NC_000015.9:g.42695161T>C , CM000677.1:g.42695161T>C	GRCh37
NC_000015.8:g.40482453T>C	NCBI36
NG_008660.1:g.59861T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1562T>C	ENSP00000183936.4:p.Phe521Ser
ENST00000357568.8:c.1706T>C	ENSP00000350181.3:p.Phe569Ser
ENST00000397163.8:c.1706T>C MANE Select	ENSP00000380349.3:p.Phe569Ser
ENST00000466369.5:n.2215T>C
ENST00000483208.5:n.2595T>C
ENST00000495723.1:n.2595T>C
ENST00000549793.5:n.1937T>C
ENST00000638141.2:n.1577T>C
ENST00000673646.1:c.170T>C	ENSP00000501007.1:p.Phe57Ser
ENST00000673705.1:c.309+3311T>C	ENSP00000501021.1:n.309+3311T>C
ENST00000673813.1:n.580+48T>C
ENST00000318023.11:c.1562T>C	ENSP00000326281.8:p.Phe521Ser
ENST00000349748.7:c.1562T>C	ENSP00000183936.4:p.Phe521Ser
ENST00000357568.7:c.1706T>C	ENSP00000350181.3:p.Phe569Ser
ENST00000397163.7:c.1706T>C	ENSP00000380349.3:p.Phe569Ser
ENST00000397200.8:c.170T>C	ENSP00000380384.4:p.Phe57Ser
ENST00000567071.5:c.165T>C
ENST00000569827.5:c.170T>C	ENSP00000454379.1:p.Phe57Ser
NM_000070.2:c.1706T>C	NP_000061.1:p.Phe569Ser
NM_024344.1:c.1706T>C	NP_077320.1:p.Phe569Ser
NM_173087.1:c.1562T>C	NP_775110.1:p.Phe521Ser
NM_173088.1:c.170T>C	NP_775111.1:p.Phe57Ser
NM_000070.3:c.1706T>C MANE Select	NP_000061.1:p.Phe569Ser
NM_024344.2:c.1706T>C	NP_077320.1:p.Phe569Ser
NM_173087.2:c.1562T>C	NP_775110.1:p.Phe521Ser
NM_173088.2:c.170T>C	NP_775111.1:p.Phe57Ser