Canonical Allele Identifier: CA392001652

Gene: CAPN3

Linked Data

• gnomAD v4: 15-42410453-T-C
• MyVariant Identifiers: chr15:g.42702651T>C (hg19) ; chr15:g.42410453T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42410453T>C , CM000677.2:g.42410453T>C	GRCh38
NC_000015.9:g.42702651T>C , CM000677.1:g.42702651T>C	GRCh37
NC_000015.8:g.40489943T>C	NCBI36
NG_008660.1:g.67351T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000337571.9:c.146T>C	ENSP00000336840.4:p.Leu49Pro
ENST00000349748.8:c.1865T>C	ENSP00000183936.4:p.Leu622Pro
ENST00000357568.8:c.2123T>C	ENSP00000350181.3:p.Leu708Pro
ENST00000397163.8:c.2141T>C MANE Select	ENSP00000380349.3:p.Leu714Pro
ENST00000397204.9:c.146T>C	ENSP00000380387.4:p.Leu49Pro
ENST00000466222.7:n.406T>C
ENST00000466369.5:n.2632T>C
ENST00000495723.1:n.3012T>C
ENST00000549793.5:n.2354T>C
ENST00000562199.2:c.145T>C	ENSP00000501034.1:p.Cys49Arg
ENST00000568153.2:c.7T>C
ENST00000569136.6:c.146T>C	ENSP00000455254.1:p.Leu49Pro
ENST00000638141.2:n.1880T>C
ENST00000673646.1:c.705T>C	ENSP00000501007.1:n.705T>C
ENST00000673684.1:n.123T>C
ENST00000673687.1:n.650T>C
ENST00000673692.1:c.146T>C	ENSP00000501138.1:p.Leu49Pro
ENST00000673705.1:c.511-135T>C	ENSP00000501021.1:n.511-135T>C
ENST00000673743.1:c.44T>C	ENSP00000500989.1:p.Leu15Pro
ENST00000673750.1:c.146T>C	ENSP00000501173.1:p.Leu49Pro
ENST00000673771.1:c.146T>C	ENSP00000501023.1:p.Leu49Pro
ENST00000673774.1:n.1274T>C
ENST00000673839.1:c.146T>C	ENSP00000501188.1:p.Leu49Pro
ENST00000673851.1:c.146T>C	ENSP00000501142.1:p.Leu49Pro
ENST00000673854.1:n.5563T>C
ENST00000673886.1:c.146T>C	ENSP00000501155.1:p.Leu49Pro
ENST00000673890.1:c.146T>C	ENSP00000501293.1:p.Leu49Pro
ENST00000673893.1:c.344T>C	ENSP00000500987.1:n.344T>C
ENST00000673928.1:c.146T>C	ENSP00000501099.1:p.Leu49Pro
ENST00000673936.1:c.146T>C	ENSP00000501189.1:p.Leu49Pro
ENST00000673939.1:c.146T>C	ENSP00000501129.1:p.Leu49Pro
ENST00000673950.1:n.415T>C
ENST00000673978.1:c.284T>C	ENSP00000500976.1:p.Leu95Pro
ENST00000673987.1:c.146T>C	ENSP00000501231.1:p.Leu49Pro
ENST00000674011.1:c.146T>C	ENSP00000501171.1:p.Leu49Pro
ENST00000674018.1:c.146T>C	ENSP00000501271.1:p.Leu49Pro
ENST00000674027.1:n.201T>C
ENST00000674041.1:c.146T>C	ENSP00000500956.1:p.Leu49Pro
ENST00000674052.1:c.365T>C	ENSP00000501057.1:p.Leu122Pro
ENST00000674093.1:c.146T>C	ENSP00000501303.1:p.Leu49Pro
ENST00000674119.1:c.146T>C	ENSP00000501217.1:p.Leu49Pro
ENST00000674135.1:c.323T>C	ENSP00000501178.1:p.Leu108Pro
ENST00000674139.1:c.146T>C	ENSP00000501054.1:p.Leu49Pro
ENST00000674146.1:c.146T>C	ENSP00000501175.1:p.Leu49Pro
ENST00000674149.1:c.146T>C	ENSP00000501112.1:p.Leu49Pro
ENST00000318023.11:c.1997T>C	ENSP00000326281.8:p.Leu666Pro
ENST00000337571.8:c.146T>C	ENSP00000336840.4:p.Leu49Pro
ENST00000349748.7:c.1865T>C	ENSP00000183936.4:p.Leu622Pro
ENST00000356316.7:c.146T>C	ENSP00000348667.4:p.Leu49Pro
ENST00000357568.7:c.2123T>C	ENSP00000350181.3:p.Leu708Pro
ENST00000397163.7:c.2141T>C	ENSP00000380349.3:p.Leu714Pro
ENST00000397200.8:c.605T>C	ENSP00000380384.4:p.Leu202Pro
ENST00000397204.8:c.146T>C	ENSP00000380387.4:p.Leu49Pro
ENST00000466222.6:n.1064T>C
ENST00000561817.5:c.146T>C	ENSP00000456575.1:p.Leu49Pro
ENST00000562199.1:n.145T>C
ENST00000564503.5:c.238T>C
ENST00000565274.5:c.373T>C	ENSP00000457759.1:n.373T>C
ENST00000565559.5:c.323T>C	ENSP00000457878.1:p.Leu108Pro
ENST00000569136.5:c.146T>C	ENSP00000455254.1:p.Leu49Pro
ENST00000569827.5:c.473T>C	ENSP00000454379.1:p.Leu158Pro
NM_000070.2:c.2141T>C	NP_000061.1:p.Leu714Pro
NM_024344.1:c.2123T>C	NP_077320.1:p.Leu708Pro
NM_173087.1:c.1865T>C	NP_775110.1:p.Leu622Pro
NM_173088.1:c.605T>C	NP_775111.1:p.Leu202Pro
NM_173089.1:c.146T>C	NP_775112.1:p.Leu49Pro
NM_173090.1:c.146T>C	NP_775113.1:p.Leu49Pro
NM_000070.3:c.2141T>C MANE Select	NP_000061.1:p.Leu714Pro
NM_024344.2:c.2123T>C	NP_077320.1:p.Leu708Pro
NM_173087.2:c.1865T>C	NP_775110.1:p.Leu622Pro
NM_173088.2:c.605T>C	NP_775111.1:p.Leu202Pro
NM_173089.2:c.146T>C	NP_775112.1:p.Leu49Pro
NM_173090.2:c.146T>C	NP_775113.1:p.Leu49Pro