Canonical Allele Identifier: CA489885784

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1630693
• ClinVar RCV Id: RCV002121372
• dbSNP Id: rs2054156832
• gnomAD v3: 15-42409960-C-T
• gnomAD v4: 15-42409960-C-T
• MyVariant Identifiers: chr15:g.42702158C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42409960C>T , CM000677.2:g.42409960C>T	GRCh38
NC_000015.9:g.42702158C>T , CM000677.1:g.42702158C>T	GRCh37
NC_000015.8:g.40489450C>T	NCBI36
NG_008660.1:g.66858C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.85C>T	ENSP00000336840.4:p.Leu29=
ENST00000349748.8:c.1804C>T	ENSP00000183936.4:p.Leu602=
ENST00000357568.8:c.2062C>T	ENSP00000350181.3:p.Leu688=
ENST00000397163.8:c.2080C>T MANE Select	ENSP00000380349.3:p.Leu694=
ENST00000397204.9:c.85C>T	ENSP00000380387.4:p.Leu29=
ENST00000466222.7:n.345C>T
ENST00000466369.5:n.2571C>T
ENST00000495723.1:n.2951C>T
ENST00000549793.5:n.2293C>T
ENST00000562199.2:c.88C>T	ENSP00000501034.1:p.Leu30=
ENST00000569136.6:c.85C>T	ENSP00000455254.1:p.Leu29=
ENST00000638141.2:n.1819C>T
ENST00000673646.1:c.644C>T	ENSP00000501007.1:n.644C>T
ENST00000673687.1:n.157C>T
ENST00000673692.1:c.85C>T	ENSP00000501138.1:p.Leu29=
ENST00000673705.1:c.475C>T	ENSP00000501021.1:n.475C>T
ENST00000673743.1:c.-18C>T	ENSP00000500989.1:n.-18C>T
ENST00000673750.1:c.85C>T	ENSP00000501173.1:p.Leu29=
ENST00000673771.1:c.85C>T	ENSP00000501023.1:p.Leu29=
ENST00000673774.1:n.781C>T
ENST00000673839.1:c.85C>T	ENSP00000501188.1:p.Leu29=
ENST00000673851.1:c.85C>T	ENSP00000501142.1:p.Leu29=
ENST00000673854.1:n.5502C>T
ENST00000673886.1:c.85C>T	ENSP00000501155.1:p.Leu29=
ENST00000673890.1:c.85C>T	ENSP00000501293.1:p.Leu29=
ENST00000673893.1:c.4C>T	ENSP00000500987.1:p.Leu2=
ENST00000673928.1:c.85C>T	ENSP00000501099.1:p.Leu29=
ENST00000673936.1:c.85C>T	ENSP00000501189.1:p.Leu29=
ENST00000673939.1:c.85C>T	ENSP00000501129.1:p.Leu29=
ENST00000673950.1:n.354C>T
ENST00000673978.1:c.223C>T	ENSP00000500976.1:p.Leu75=
ENST00000673987.1:c.85C>T	ENSP00000501231.1:p.Leu29=
ENST00000674011.1:c.85C>T	ENSP00000501171.1:p.Leu29=
ENST00000674018.1:c.85C>T	ENSP00000501271.1:p.Leu29=
ENST00000674027.1:n.140C>T
ENST00000674041.1:c.85C>T	ENSP00000500956.1:p.Leu29=
ENST00000674052.1:c.304C>T	ENSP00000501057.1:p.Leu102=
ENST00000674093.1:c.85C>T	ENSP00000501303.1:p.Leu29=
ENST00000674119.1:c.85C>T	ENSP00000501217.1:p.Leu29=
ENST00000674130.1:n.298C>T
ENST00000674135.1:c.262C>T	ENSP00000501178.1:p.Leu88=
ENST00000674139.1:c.85C>T	ENSP00000501054.1:p.Leu29=
ENST00000674146.1:c.85C>T	ENSP00000501175.1:p.Leu29=
ENST00000674149.1:c.85C>T	ENSP00000501112.1:p.Leu29=
ENST00000318023.11:c.1936C>T	ENSP00000326281.8:p.Leu646=
ENST00000337571.8:c.85C>T	ENSP00000336840.4:p.Leu29=
ENST00000349748.7:c.1804C>T	ENSP00000183936.4:p.Leu602=
ENST00000356316.7:c.85C>T	ENSP00000348667.4:p.Leu29=
ENST00000357568.7:c.2062C>T	ENSP00000350181.3:p.Leu688=
ENST00000397163.7:c.2080C>T	ENSP00000380349.3:p.Leu694=
ENST00000397200.8:c.544C>T	ENSP00000380384.4:p.Leu182=
ENST00000397204.8:c.85C>T	ENSP00000380387.4:p.Leu29=
ENST00000466222.6:n.1003C>T
ENST00000561817.5:c.85C>T	ENSP00000456575.1:p.Leu29=
ENST00000562199.1:n.88C>T
ENST00000564503.5:c.177C>T
ENST00000565274.5:c.292C>T	ENSP00000457759.1:p.Leu98=
ENST00000565559.5:c.262C>T	ENSP00000457878.1:p.Leu88=
ENST00000567071.5:c.560C>T
ENST00000569136.5:c.85C>T	ENSP00000455254.1:p.Leu29=
ENST00000569827.5:c.412C>T	ENSP00000454379.1:p.Leu138=
NM_000070.2:c.2080C>T	NP_000061.1:p.Leu694=
NM_024344.1:c.2062C>T	NP_077320.1:p.Leu688=
NM_173087.1:c.1804C>T	NP_775110.1:p.Leu602=
NM_173088.1:c.544C>T	NP_775111.1:p.Leu182=
NM_173089.1:c.85C>T	NP_775112.1:p.Leu29=
NM_173090.1:c.85C>T	NP_775113.1:p.Leu29=
NM_000070.3:c.2080C>T MANE Select	NP_000061.1:p.Leu694=
NM_024344.2:c.2062C>T	NP_077320.1:p.Leu688=
NM_173087.2:c.1804C>T	NP_775110.1:p.Leu602=
NM_173088.2:c.544C>T	NP_775111.1:p.Leu182=
NM_173089.2:c.85C>T	NP_775112.1:p.Leu29=
NM_173090.2:c.85C>T	NP_775113.1:p.Leu29=