Canonical Allele Identifier: CA241128

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 194912
• ClinVar RCV Id: RCV000175388 ; RCV001117730
• dbSNP Id: rs762776236
• ExAC: 15:42702177 T / C
• gnomAD v2: 15-42702177-T-C
• gnomAD v3: 15-42409979-T-C
• gnomAD v4: 15-42409979-T-C
• MyVariant Identifiers: chr15:g.42702177T>C (hg19) ; chr15:g.42409979T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42409979T>C , CM000677.2:g.42409979T>C	GRCh38
NC_000015.9:g.42702177T>C , CM000677.1:g.42702177T>C	GRCh37
NC_000015.8:g.40489469T>C	NCBI36
NG_008660.1:g.66877T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.104T>C	ENSP00000336840.4:p.Met35Thr
ENST00000349748.8:c.1823T>C	ENSP00000183936.4:p.Met608Thr
ENST00000357568.8:c.2081T>C	ENSP00000350181.3:p.Met694Thr
ENST00000397163.8:c.2099T>C MANE Select	ENSP00000380349.3:p.Met700Thr
ENST00000397204.9:c.104T>C	ENSP00000380387.4:p.Met35Thr
ENST00000466222.7:n.364T>C
ENST00000466369.5:n.2590T>C
ENST00000495723.1:n.2970T>C
ENST00000549793.5:n.2312T>C
ENST00000562199.2:c.107T>C	ENSP00000501034.1:p.Met36Thr
ENST00000569136.6:c.104T>C	ENSP00000455254.1:p.Met35Thr
ENST00000638141.2:n.1838T>C
ENST00000673646.1:c.663T>C	ENSP00000501007.1:n.663T>C
ENST00000673687.1:n.176T>C
ENST00000673692.1:c.104T>C	ENSP00000501138.1:p.Met35Thr
ENST00000673705.1:c.494T>C	ENSP00000501021.1:n.494T>C
ENST00000673743.1:c.2T>C	ENSP00000500989.1:p.Met1Thr
ENST00000673750.1:c.104T>C	ENSP00000501173.1:p.Met35Thr
ENST00000673771.1:c.104T>C	ENSP00000501023.1:p.Met35Thr
ENST00000673774.1:n.800T>C
ENST00000673839.1:c.104T>C	ENSP00000501188.1:p.Met35Thr
ENST00000673851.1:c.104T>C	ENSP00000501142.1:p.Met35Thr
ENST00000673854.1:n.5521T>C
ENST00000673886.1:c.104T>C	ENSP00000501155.1:p.Met35Thr
ENST00000673890.1:c.104T>C	ENSP00000501293.1:p.Met35Thr
ENST00000673893.1:c.23T>C	ENSP00000500987.1:p.Met8Thr
ENST00000673928.1:c.104T>C	ENSP00000501099.1:p.Met35Thr
ENST00000673936.1:c.104T>C	ENSP00000501189.1:p.Met35Thr
ENST00000673939.1:c.104T>C	ENSP00000501129.1:p.Met35Thr
ENST00000673950.1:n.373T>C
ENST00000673978.1:c.242T>C	ENSP00000500976.1:p.Met81Thr
ENST00000673987.1:c.104T>C	ENSP00000501231.1:p.Met35Thr
ENST00000674011.1:c.104T>C	ENSP00000501171.1:p.Met35Thr
ENST00000674018.1:c.104T>C	ENSP00000501271.1:p.Met35Thr
ENST00000674027.1:n.159T>C
ENST00000674041.1:c.104T>C	ENSP00000500956.1:p.Met35Thr
ENST00000674052.1:c.323T>C	ENSP00000501057.1:p.Met108Thr
ENST00000674093.1:c.104T>C	ENSP00000501303.1:p.Met35Thr
ENST00000674119.1:c.104T>C	ENSP00000501217.1:p.Met35Thr
ENST00000674130.1:n.317T>C
ENST00000674135.1:c.281T>C	ENSP00000501178.1:p.Met94Thr
ENST00000674139.1:c.104T>C	ENSP00000501054.1:p.Met35Thr
ENST00000674146.1:c.104T>C	ENSP00000501175.1:p.Met35Thr
ENST00000674149.1:c.104T>C	ENSP00000501112.1:p.Met35Thr
ENST00000318023.11:c.1955T>C	ENSP00000326281.8:p.Met652Thr
ENST00000337571.8:c.104T>C	ENSP00000336840.4:p.Met35Thr
ENST00000349748.7:c.1823T>C	ENSP00000183936.4:p.Met608Thr
ENST00000356316.7:c.104T>C	ENSP00000348667.4:p.Met35Thr
ENST00000357568.7:c.2081T>C	ENSP00000350181.3:p.Met694Thr
ENST00000397163.7:c.2099T>C	ENSP00000380349.3:p.Met700Thr
ENST00000397200.8:c.563T>C	ENSP00000380384.4:p.Met188Thr
ENST00000397204.8:c.104T>C	ENSP00000380387.4:p.Met35Thr
ENST00000466222.6:n.1022T>C
ENST00000561817.5:c.104T>C	ENSP00000456575.1:p.Met35Thr
ENST00000562199.1:n.107T>C
ENST00000564503.5:c.196T>C
ENST00000565274.5:c.311T>C	ENSP00000457759.1:p.Met104Thr
ENST00000565559.5:c.281T>C	ENSP00000457878.1:p.Met94Thr
ENST00000569136.5:c.104T>C	ENSP00000455254.1:p.Met35Thr
ENST00000569827.5:c.431T>C	ENSP00000454379.1:p.Met144Thr
NM_000070.2:c.2099T>C	NP_000061.1:p.Met700Thr
NM_024344.1:c.2081T>C	NP_077320.1:p.Met694Thr
NM_173087.1:c.1823T>C	NP_775110.1:p.Met608Thr
NM_173088.1:c.563T>C	NP_775111.1:p.Met188Thr
NM_173089.1:c.104T>C	NP_775112.1:p.Met35Thr
NM_173090.1:c.104T>C	NP_775113.1:p.Met35Thr
NM_000070.3:c.2099T>C MANE Select	NP_000061.1:p.Met700Thr
NM_024344.2:c.2081T>C	NP_077320.1:p.Met694Thr
NM_173087.2:c.1823T>C	NP_775110.1:p.Met608Thr
NM_173088.2:c.563T>C	NP_775111.1:p.Met188Thr
NM_173089.2:c.104T>C	NP_775112.1:p.Met35Thr
NM_173090.2:c.104T>C	NP_775113.1:p.Met35Thr