Canonical Allele Identifier: CA392002348

Gene: CAPN3

Linked Data

• dbSNP Id: rs1261440115
• gnomAD v2: 15-42703539-T-C
• gnomAD v4: 15-42411341-T-C
• MyVariant Identifiers: chr15:g.42703539T>C (hg19) ; chr15:g.42411341T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42411341T>C , CM000677.2:g.42411341T>C	GRCh38
NC_000015.9:g.42703539T>C , CM000677.1:g.42703539T>C	GRCh37
NC_000015.8:g.40490831T>C	NCBI36
NG_008660.1:g.68239T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.440T>C	ENSP00000336840.4:p.Leu147Pro
ENST00000349748.8:c.2159T>C	ENSP00000183936.4:p.Leu720Pro
ENST00000357568.8:c.2417T>C	ENSP00000350181.3:p.Leu806Pro
ENST00000397163.8:c.2435T>C MANE Select	ENSP00000380349.3:p.Leu812Pro
ENST00000397204.9:c.440T>C	ENSP00000380387.4:p.Leu147Pro
ENST00000466222.7:n.806T>C
ENST00000466369.5:n.2926T>C
ENST00000495723.1:n.3306T>C
ENST00000549793.5:n.2648T>C
ENST00000562199.2:c.439T>C	ENSP00000501034.1:n.439T>C
ENST00000567817.6:c.224T>C	ENSP00000456514.2:p.Leu75Pro
ENST00000568153.2:c.301T>C
ENST00000569136.6:c.440T>C	ENSP00000455254.1:p.Leu147Pro
ENST00000638141.2:n.2174T>C
ENST00000673646.1:c.999T>C	ENSP00000501007.1:n.999T>C
ENST00000673684.1:n.417T>C
ENST00000673692.1:c.440T>C	ENSP00000501138.1:p.Leu147Pro
ENST00000673705.1:c.1264T>C	ENSP00000501021.1:n.1264T>C
ENST00000673743.1:c.338T>C	ENSP00000500989.1:p.Leu113Pro
ENST00000673750.1:c.440T>C	ENSP00000501173.1:p.Leu147Pro
ENST00000673771.1:c.440T>C	ENSP00000501023.1:p.Leu147Pro
ENST00000673774.1:n.1568T>C
ENST00000673851.1:c.440T>C	ENSP00000501142.1:p.Leu147Pro
ENST00000673854.1:n.5857T>C
ENST00000673886.1:c.440T>C	ENSP00000501155.1:p.Leu147Pro
ENST00000673890.1:c.440T>C	ENSP00000501293.1:p.Leu147Pro
ENST00000673928.1:c.440T>C	ENSP00000501099.1:p.Leu147Pro
ENST00000673936.1:c.440T>C	ENSP00000501189.1:p.Leu147Pro
ENST00000673939.1:c.*155T>C	ENSP00000501129.1:n.*155T>C
ENST00000673950.1:n.709T>C
ENST00000673978.1:c.578T>C	ENSP00000500976.1:p.Leu193Pro
ENST00000673987.1:c.*155T>C	ENSP00000501231.1:n.*155T>C
ENST00000674011.1:c.*229T>C	ENSP00000501171.1:n.*229T>C
ENST00000674018.1:c.440T>C	ENSP00000501271.1:p.Leu147Pro
ENST00000674027.1:n.586T>C
ENST00000674041.1:c.440T>C	ENSP00000500956.1:p.Leu147Pro
ENST00000674052.1:c.659T>C	ENSP00000501057.1:p.Leu220Pro
ENST00000674093.1:c.440T>C	ENSP00000501303.1:p.Leu147Pro
ENST00000674119.1:c.440T>C	ENSP00000501217.1:p.Leu147Pro
ENST00000674139.1:c.440T>C	ENSP00000501054.1:p.Leu147Pro
ENST00000674146.1:c.440T>C	ENSP00000501175.1:p.Leu147Pro
ENST00000674149.1:c.440T>C	ENSP00000501112.1:p.Leu147Pro
ENST00000318023.11:c.2291T>C	ENSP00000326281.8:p.Leu764Pro
ENST00000337571.8:c.440T>C	ENSP00000336840.4:p.Leu147Pro
ENST00000349748.7:c.2159T>C	ENSP00000183936.4:p.Leu720Pro
ENST00000356316.7:c.440T>C	ENSP00000348667.4:p.Leu147Pro
ENST00000357568.7:c.2417T>C	ENSP00000350181.3:p.Leu806Pro
ENST00000397163.7:c.2435T>C	ENSP00000380349.3:p.Leu812Pro
ENST00000397200.8:c.899T>C	ENSP00000380384.4:p.Leu300Pro
ENST00000397204.8:c.440T>C	ENSP00000380387.4:p.Leu147Pro
ENST00000466222.6:n.1358T>C
ENST00000561817.5:c.440T>C	ENSP00000456575.1:p.Leu147Pro
ENST00000564503.5:c.478T>C
ENST00000565274.5:c.613T>C	ENSP00000457759.1:n.613T>C
ENST00000567817.5:c.251T>C	ENSP00000456514.1:p.Leu84Pro
ENST00000568153.1:c.172T>C
ENST00000569136.5:c.440T>C	ENSP00000455254.1:p.Leu147Pro
ENST00000569827.5:c.767T>C
NM_000070.2:c.2435T>C	NP_000061.1:p.Leu812Pro
NM_024344.1:c.2417T>C	NP_077320.1:p.Leu806Pro
NM_173087.1:c.2159T>C	NP_775110.1:p.Leu720Pro
NM_173088.1:c.899T>C	NP_775111.1:p.Leu300Pro
NM_173089.1:c.440T>C	NP_775112.1:p.Leu147Pro
NM_173090.1:c.440T>C	NP_775113.1:p.Leu147Pro
NM_000070.3:c.2435T>C MANE Select	NP_000061.1:p.Leu812Pro
NM_024344.2:c.2417T>C	NP_077320.1:p.Leu806Pro
NM_173087.2:c.2159T>C	NP_775110.1:p.Leu720Pro
NM_173088.2:c.899T>C	NP_775111.1:p.Leu300Pro
NM_173089.2:c.440T>C	NP_775112.1:p.Leu147Pro
NM_173090.2:c.440T>C	NP_775113.1:p.Leu147Pro