Canonical Allele Identifier: CA10606548

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 289785
• ClinVar RCV Id: RCV003631113
• dbSNP Id: rs886044264
• gnomAD v4: 15-42410450-A-C
• MyVariant Identifiers: chr15:g.42702648A>C (hg19) ; chr15:g.42410450A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42410450A>C , CM000677.2:g.42410450A>C	GRCh38
NC_000015.9:g.42702648A>C , CM000677.1:g.42702648A>C	GRCh37
NC_000015.8:g.40489940A>C	NCBI36
NG_008660.1:g.67348A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000337571.9:c.143A>C	ENSP00000336840.4:p.Asn48Thr
ENST00000349748.8:c.1862A>C	ENSP00000183936.4:p.Asn621Thr
ENST00000357568.8:c.2120A>C	ENSP00000350181.3:p.Asn707Thr
ENST00000397163.8:c.2138A>C MANE Select	ENSP00000380349.3:p.Asn713Thr
ENST00000397204.9:c.143A>C	ENSP00000380387.4:p.Asn48Thr
ENST00000466222.7:n.403A>C
ENST00000466369.5:n.2629A>C
ENST00000495723.1:n.3009A>C
ENST00000549793.5:n.2351A>C
ENST00000562199.2:c.142A>C	ENSP00000501034.1:p.Thr48Pro
ENST00000568153.2:c.4A>C
ENST00000569136.6:c.143A>C	ENSP00000455254.1:p.Asn48Thr
ENST00000638141.2:n.1877A>C
ENST00000673646.1:c.702A>C	ENSP00000501007.1:n.702A>C
ENST00000673684.1:n.120A>C
ENST00000673687.1:n.647A>C
ENST00000673692.1:c.143A>C	ENSP00000501138.1:p.Asn48Thr
ENST00000673705.1:c.511-138A>C	ENSP00000501021.1:n.511-138A>C
ENST00000673743.1:c.41A>C	ENSP00000500989.1:p.Asn14Thr
ENST00000673750.1:c.143A>C	ENSP00000501173.1:p.Asn48Thr
ENST00000673771.1:c.143A>C	ENSP00000501023.1:p.Asn48Thr
ENST00000673774.1:n.1271A>C
ENST00000673839.1:c.143A>C	ENSP00000501188.1:p.Asn48Thr
ENST00000673851.1:c.143A>C	ENSP00000501142.1:p.Asn48Thr
ENST00000673854.1:n.5560A>C
ENST00000673886.1:c.143A>C	ENSP00000501155.1:p.Asn48Thr
ENST00000673890.1:c.143A>C	ENSP00000501293.1:p.Asn48Thr
ENST00000673893.1:c.341A>C	ENSP00000500987.1:n.341A>C
ENST00000673928.1:c.143A>C	ENSP00000501099.1:p.Asn48Thr
ENST00000673936.1:c.143A>C	ENSP00000501189.1:p.Asn48Thr
ENST00000673939.1:c.143A>C	ENSP00000501129.1:p.Asn48Thr
ENST00000673950.1:n.412A>C
ENST00000673978.1:c.281A>C	ENSP00000500976.1:p.Asn94Thr
ENST00000673987.1:c.143A>C	ENSP00000501231.1:p.Asn48Thr
ENST00000674011.1:c.143A>C	ENSP00000501171.1:p.Asn48Thr
ENST00000674018.1:c.143A>C	ENSP00000501271.1:p.Asn48Thr
ENST00000674027.1:n.198A>C
ENST00000674041.1:c.143A>C	ENSP00000500956.1:p.Asn48Thr
ENST00000674052.1:c.362A>C	ENSP00000501057.1:p.Asn121Thr
ENST00000674093.1:c.143A>C	ENSP00000501303.1:p.Asn48Thr
ENST00000674119.1:c.143A>C	ENSP00000501217.1:p.Asn48Thr
ENST00000674135.1:c.320A>C	ENSP00000501178.1:p.Asn107Thr
ENST00000674139.1:c.143A>C	ENSP00000501054.1:p.Asn48Thr
ENST00000674146.1:c.143A>C	ENSP00000501175.1:p.Asn48Thr
ENST00000674149.1:c.143A>C	ENSP00000501112.1:p.Asn48Thr
ENST00000318023.11:c.1994A>C	ENSP00000326281.8:p.Asn665Thr
ENST00000337571.8:c.143A>C	ENSP00000336840.4:p.Asn48Thr
ENST00000349748.7:c.1862A>C	ENSP00000183936.4:p.Asn621Thr
ENST00000356316.7:c.143A>C	ENSP00000348667.4:p.Asn48Thr
ENST00000357568.7:c.2120A>C	ENSP00000350181.3:p.Asn707Thr
ENST00000397163.7:c.2138A>C	ENSP00000380349.3:p.Asn713Thr
ENST00000397200.8:c.602A>C	ENSP00000380384.4:p.Asn201Thr
ENST00000397204.8:c.143A>C	ENSP00000380387.4:p.Asn48Thr
ENST00000466222.6:n.1061A>C
ENST00000561817.5:c.143A>C	ENSP00000456575.1:p.Asn48Thr
ENST00000562199.1:n.142A>C
ENST00000564503.5:c.235A>C
ENST00000565274.5:c.370A>C	ENSP00000457759.1:n.370A>C
ENST00000565559.5:c.320A>C	ENSP00000457878.1:p.Asn107Thr
ENST00000569136.5:c.143A>C	ENSP00000455254.1:p.Asn48Thr
ENST00000569827.5:c.470A>C	ENSP00000454379.1:p.Asn157Thr
NM_000070.2:c.2138A>C	NP_000061.1:p.Asn713Thr
NM_024344.1:c.2120A>C	NP_077320.1:p.Asn707Thr
NM_173087.1:c.1862A>C	NP_775110.1:p.Asn621Thr
NM_173088.1:c.602A>C	NP_775111.1:p.Asn201Thr
NM_173089.1:c.143A>C	NP_775112.1:p.Asn48Thr
NM_173090.1:c.143A>C	NP_775113.1:p.Asn48Thr
NM_000070.3:c.2138A>C MANE Select	NP_000061.1:p.Asn713Thr
NM_024344.2:c.2120A>C	NP_077320.1:p.Asn707Thr
NM_173087.2:c.1862A>C	NP_775110.1:p.Asn621Thr
NM_173088.2:c.602A>C	NP_775111.1:p.Asn201Thr
NM_173089.2:c.143A>C	NP_775112.1:p.Asn48Thr
NM_173090.2:c.143A>C	NP_775113.1:p.Asn48Thr