Canonical Allele Identifier: CA269852732

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 2155444
• ClinVar RCV Id: RCV003072340
• dbSNP Id: rs564594188
• gnomAD v2: 15-42702168-G-C
• gnomAD v3: 15-42409970-G-C
• gnomAD v4: 15-42409970-G-C
• MyVariant Identifiers: chr15:g.42702168G>C (hg19) ; chr15:g.42409970G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42409970G>C , CM000677.2:g.42409970G>C	GRCh38
NC_000015.9:g.42702168G>C , CM000677.1:g.42702168G>C	GRCh37
NC_000015.8:g.40489460G>C	NCBI36
NG_008660.1:g.66868G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.95G>C	ENSP00000336840.4:p.Cys32Ser
ENST00000349748.8:c.1814G>C	ENSP00000183936.4:p.Cys605Ser
ENST00000357568.8:c.2072G>C	ENSP00000350181.3:p.Cys691Ser
ENST00000397163.8:c.2090G>C MANE Select	ENSP00000380349.3:p.Cys697Ser
ENST00000397204.9:c.95G>C	ENSP00000380387.4:p.Cys32Ser
ENST00000466222.7:n.355G>C
ENST00000466369.5:n.2581G>C
ENST00000495723.1:n.2961G>C
ENST00000549793.5:n.2303G>C
ENST00000562199.2:c.98G>C	ENSP00000501034.1:p.Cys33Ser
ENST00000569136.6:c.95G>C	ENSP00000455254.1:p.Cys32Ser
ENST00000638141.2:n.1829G>C
ENST00000673646.1:c.654G>C	ENSP00000501007.1:n.654G>C
ENST00000673687.1:n.167G>C
ENST00000673692.1:c.95G>C	ENSP00000501138.1:p.Cys32Ser
ENST00000673705.1:c.485G>C	ENSP00000501021.1:n.485G>C
ENST00000673743.1:c.-8G>C	ENSP00000500989.1:n.-8G>C
ENST00000673750.1:c.95G>C	ENSP00000501173.1:p.Cys32Ser
ENST00000673771.1:c.95G>C	ENSP00000501023.1:p.Cys32Ser
ENST00000673774.1:n.791G>C
ENST00000673839.1:c.95G>C	ENSP00000501188.1:p.Cys32Ser
ENST00000673851.1:c.95G>C	ENSP00000501142.1:p.Cys32Ser
ENST00000673854.1:n.5512G>C
ENST00000673886.1:c.95G>C	ENSP00000501155.1:p.Cys32Ser
ENST00000673890.1:c.95G>C	ENSP00000501293.1:p.Cys32Ser
ENST00000673893.1:c.14G>C	ENSP00000500987.1:p.Cys5Ser
ENST00000673928.1:c.95G>C	ENSP00000501099.1:p.Cys32Ser
ENST00000673936.1:c.95G>C	ENSP00000501189.1:p.Cys32Ser
ENST00000673939.1:c.95G>C	ENSP00000501129.1:p.Cys32Ser
ENST00000673950.1:n.364G>C
ENST00000673978.1:c.233G>C	ENSP00000500976.1:p.Cys78Ser
ENST00000673987.1:c.95G>C	ENSP00000501231.1:p.Cys32Ser
ENST00000674011.1:c.95G>C	ENSP00000501171.1:p.Cys32Ser
ENST00000674018.1:c.95G>C	ENSP00000501271.1:p.Cys32Ser
ENST00000674027.1:n.150G>C
ENST00000674041.1:c.95G>C	ENSP00000500956.1:p.Cys32Ser
ENST00000674052.1:c.314G>C	ENSP00000501057.1:p.Cys105Ser
ENST00000674093.1:c.95G>C	ENSP00000501303.1:p.Cys32Ser
ENST00000674119.1:c.95G>C	ENSP00000501217.1:p.Cys32Ser
ENST00000674130.1:n.308G>C
ENST00000674135.1:c.272G>C	ENSP00000501178.1:p.Cys91Ser
ENST00000674139.1:c.95G>C	ENSP00000501054.1:p.Cys32Ser
ENST00000674146.1:c.95G>C	ENSP00000501175.1:p.Cys32Ser
ENST00000674149.1:c.95G>C	ENSP00000501112.1:p.Cys32Ser
ENST00000318023.11:c.1946G>C	ENSP00000326281.8:p.Cys649Ser
ENST00000337571.8:c.95G>C	ENSP00000336840.4:p.Cys32Ser
ENST00000349748.7:c.1814G>C	ENSP00000183936.4:p.Cys605Ser
ENST00000356316.7:c.95G>C	ENSP00000348667.4:p.Cys32Ser
ENST00000357568.7:c.2072G>C	ENSP00000350181.3:p.Cys691Ser
ENST00000397163.7:c.2090G>C	ENSP00000380349.3:p.Cys697Ser
ENST00000397200.8:c.554G>C	ENSP00000380384.4:p.Cys185Ser
ENST00000397204.8:c.95G>C	ENSP00000380387.4:p.Cys32Ser
ENST00000466222.6:n.1013G>C
ENST00000561817.5:c.95G>C	ENSP00000456575.1:p.Cys32Ser
ENST00000562199.1:n.98G>C
ENST00000564503.5:c.187G>C
ENST00000565274.5:c.302G>C	ENSP00000457759.1:p.Cys101Ser
ENST00000565559.5:c.272G>C	ENSP00000457878.1:p.Cys91Ser
ENST00000569136.5:c.95G>C	ENSP00000455254.1:p.Cys32Ser
ENST00000569827.5:c.422G>C	ENSP00000454379.1:p.Cys141Ser
NM_000070.2:c.2090G>C	NP_000061.1:p.Cys697Ser
NM_024344.1:c.2072G>C	NP_077320.1:p.Cys691Ser
NM_173087.1:c.1814G>C	NP_775110.1:p.Cys605Ser
NM_173088.1:c.554G>C	NP_775111.1:p.Cys185Ser
NM_173089.1:c.95G>C	NP_775112.1:p.Cys32Ser
NM_173090.1:c.95G>C	NP_775113.1:p.Cys32Ser
NM_000070.3:c.2090G>C MANE Select	NP_000061.1:p.Cys697Ser
NM_024344.2:c.2072G>C	NP_077320.1:p.Cys691Ser
NM_173087.2:c.1814G>C	NP_775110.1:p.Cys605Ser
NM_173088.2:c.554G>C	NP_775111.1:p.Cys185Ser
NM_173089.2:c.95G>C	NP_775112.1:p.Cys32Ser
NM_173090.2:c.95G>C	NP_775113.1:p.Cys32Ser