Canonical Allele Identifier: CA241878

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 195450
• ClinVar RCV Id: RCV000597464 ; RCV000798205 ; RCV003462280
• dbSNP Id: rs794727318
• gnomAD v4: 15-42410446-C-T
• MyVariant Identifiers: chr15:g.42702644C>T (hg19) ; chr15:g.42410446C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42410446C>T , CM000677.2:g.42410446C>T	GRCh38
NC_000015.9:g.42702644C>T , CM000677.1:g.42702644C>T	GRCh37
NC_000015.8:g.40489936C>T	NCBI36
NG_008660.1:g.67344C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.139C>T	ENSP00000336840.4:p.Leu47Phe
ENST00000349748.8:c.1858C>T	ENSP00000183936.4:p.Leu620Phe
ENST00000357568.8:c.2116C>T	ENSP00000350181.3:p.Leu706Phe
ENST00000397163.8:c.2134C>T MANE Select	ENSP00000380349.3:p.Leu712Phe
ENST00000397204.9:c.139C>T	ENSP00000380387.4:p.Leu47Phe
ENST00000466222.7:n.399C>T
ENST00000466369.5:n.2625C>T
ENST00000495723.1:n.3005C>T
ENST00000549793.5:n.2347C>T
ENST00000562199.2:c.138C>T	ENSP00000501034.1:p.Ser46=
ENST00000569136.6:c.139C>T	ENSP00000455254.1:p.Leu47Phe
ENST00000638141.2:n.1873C>T
ENST00000673646.1:c.698C>T	ENSP00000501007.1:n.698C>T
ENST00000673684.1:n.116C>T
ENST00000673687.1:n.643C>T
ENST00000673692.1:c.139C>T	ENSP00000501138.1:p.Leu47Phe
ENST00000673705.1:c.511-142C>T	ENSP00000501021.1:n.511-142C>T
ENST00000673743.1:c.37C>T	ENSP00000500989.1:p.Leu13Phe
ENST00000673750.1:c.139C>T	ENSP00000501173.1:p.Leu47Phe
ENST00000673771.1:c.139C>T	ENSP00000501023.1:p.Leu47Phe
ENST00000673774.1:n.1267C>T
ENST00000673839.1:c.139C>T	ENSP00000501188.1:p.Leu47Phe
ENST00000673851.1:c.139C>T	ENSP00000501142.1:p.Leu47Phe
ENST00000673854.1:n.5556C>T
ENST00000673886.1:c.139C>T	ENSP00000501155.1:p.Leu47Phe
ENST00000673890.1:c.139C>T	ENSP00000501293.1:p.Leu47Phe
ENST00000673893.1:c.337C>T	ENSP00000500987.1:n.337C>T
ENST00000673928.1:c.139C>T	ENSP00000501099.1:p.Leu47Phe
ENST00000673936.1:c.139C>T	ENSP00000501189.1:p.Leu47Phe
ENST00000673939.1:c.139C>T	ENSP00000501129.1:p.Leu47Phe
ENST00000673950.1:n.408C>T
ENST00000673978.1:c.277C>T	ENSP00000500976.1:p.Leu93Phe
ENST00000673987.1:c.139C>T	ENSP00000501231.1:p.Leu47Phe
ENST00000674011.1:c.139C>T	ENSP00000501171.1:p.Leu47Phe
ENST00000674018.1:c.139C>T	ENSP00000501271.1:p.Leu47Phe
ENST00000674027.1:n.194C>T
ENST00000674041.1:c.139C>T	ENSP00000500956.1:p.Leu47Phe
ENST00000674052.1:c.358C>T	ENSP00000501057.1:p.Leu120Phe
ENST00000674093.1:c.139C>T	ENSP00000501303.1:p.Leu47Phe
ENST00000674119.1:c.139C>T	ENSP00000501217.1:p.Leu47Phe
ENST00000674135.1:c.316C>T	ENSP00000501178.1:p.Leu106Phe
ENST00000674139.1:c.139C>T	ENSP00000501054.1:p.Leu47Phe
ENST00000674146.1:c.139C>T	ENSP00000501175.1:p.Leu47Phe
ENST00000674149.1:c.139C>T	ENSP00000501112.1:p.Leu47Phe
ENST00000318023.11:c.1990C>T	ENSP00000326281.8:p.Leu664Phe
ENST00000337571.8:c.139C>T	ENSP00000336840.4:p.Leu47Phe
ENST00000349748.7:c.1858C>T	ENSP00000183936.4:p.Leu620Phe
ENST00000356316.7:c.139C>T	ENSP00000348667.4:p.Leu47Phe
ENST00000357568.7:c.2116C>T	ENSP00000350181.3:p.Leu706Phe
ENST00000397163.7:c.2134C>T	ENSP00000380349.3:p.Leu712Phe
ENST00000397200.8:c.598C>T	ENSP00000380384.4:p.Leu200Phe
ENST00000397204.8:c.139C>T	ENSP00000380387.4:p.Leu47Phe
ENST00000466222.6:n.1057C>T
ENST00000561817.5:c.139C>T	ENSP00000456575.1:p.Leu47Phe
ENST00000562199.1:n.138C>T
ENST00000564503.5:c.231C>T
ENST00000565274.5:c.366C>T	ENSP00000457759.1:n.366C>T
ENST00000565559.5:c.316C>T	ENSP00000457878.1:p.Leu106Phe
ENST00000569136.5:c.139C>T	ENSP00000455254.1:p.Leu47Phe
ENST00000569827.5:c.466C>T	ENSP00000454379.1:p.Leu156Phe
NM_000070.2:c.2134C>T	NP_000061.1:p.Leu712Phe
NM_024344.1:c.2116C>T	NP_077320.1:p.Leu706Phe
NM_173087.1:c.1858C>T	NP_775110.1:p.Leu620Phe
NM_173088.1:c.598C>T	NP_775111.1:p.Leu200Phe
NM_173089.1:c.139C>T	NP_775112.1:p.Leu47Phe
NM_173090.1:c.139C>T	NP_775113.1:p.Leu47Phe
NM_000070.3:c.2134C>T MANE Select	NP_000061.1:p.Leu712Phe
NM_024344.2:c.2116C>T	NP_077320.1:p.Leu706Phe
NM_173087.2:c.1858C>T	NP_775110.1:p.Leu620Phe
NM_173088.2:c.598C>T	NP_775111.1:p.Leu200Phe
NM_173089.2:c.139C>T	NP_775112.1:p.Leu47Phe
NM_173090.2:c.139C>T	NP_775113.1:p.Leu47Phe