Canonical Allele Identifier: CA7511567
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 289372
dbSNP Id: rs199806879

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42408227C>T , CM000677.2:g.42408227C>T GRCh38
NC_000015.9:g.42700425C>T , CM000677.1:g.42700425C>T GRCh37
NC_000015.8:g.40487717C>T NCBI36
NG_008660.1:g.65125C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000337571.9:c.-81-1076C>T ENSP00000336840.4:n.-81-1076C>T
ENST00000349748.8:c.1639-1076C>T ENSP00000183936.4:n.1639-1076C>T
ENST00000357568.8:c.1799C>T ENSP00000350181.3:p.Ser600Leu
ENST00000397163.8:c.1817C>T MANE Select ENSP00000380349.3:p.Ser606Leu
ENST00000397204.9:c.-81-1076C>T ENSP00000380387.4:n.-81-1076C>T
ENST00000466369.5:n.2308C>T
ENST00000495723.1:n.2688C>T
ENST00000549793.5:n.2030C>T
ENST00000565173.2:n.191C>T
ENST00000569136.6:c.-179C>T ENSP00000455254.1:n.-179C>T
ENST00000638141.2:n.1654-1076C>T
ENST00000673646.1:c.381C>T ENSP00000501007.1:n.381C>T
ENST00000673692.1:c.-3-1560C>T ENSP00000501138.1:n.-3-1560C>T
ENST00000673705.1:c.310-1076C>T ENSP00000501021.1:n.310-1076C>T
ENST00000673743.1:c.-179+87C>T ENSP00000500989.1:n.-179+87C>T
ENST00000673750.1:c.-179C>T ENSP00000501173.1:n.-179C>T
ENST00000673771.1:c.-179C>T ENSP00000501023.1:n.-179C>T
ENST00000673839.1:c.-323C>T ENSP00000501188.1:n.-323C>T
ENST00000673851.1:c.-179C>T ENSP00000501142.1:n.-179C>T
ENST00000673854.1:n.4261C>T
ENST00000673886.1:c.-179C>T ENSP00000501155.1:n.-179C>T
ENST00000673890.1:c.-179C>T ENSP00000501293.1:n.-179C>T
ENST00000673928.1:c.-82+87C>T ENSP00000501099.1:n.-82+87C>T
ENST00000673936.1:c.-179C>T ENSP00000501189.1:n.-179C>T
ENST00000673939.1:c.-81-1076C>T ENSP00000501129.1:n.-81-1076C>T
ENST00000673978.1:c.-345C>T ENSP00000500976.1:n.-345C>T
ENST00000673987.1:c.-179C>T ENSP00000501231.1:n.-179C>T
ENST00000674011.1:c.-179C>T ENSP00000501171.1:n.-179C>T
ENST00000674012.1:n.92C>T
ENST00000674018.1:c.-179C>T ENSP00000501271.1:n.-179C>T
ENST00000674041.1:c.-81-1076C>T ENSP00000500956.1:n.-81-1076C>T
ENST00000674052.1:c.41C>T ENSP00000501057.1:p.Ser14Leu
ENST00000674064.1:n.196C>T
ENST00000674093.1:c.-81-1076C>T ENSP00000501303.1:n.-81-1076C>T
ENST00000674119.1:c.-81-1076C>T ENSP00000501217.1:n.-81-1076C>T
ENST00000674135.1:c.-115C>T ENSP00000501178.1:n.-115C>T
ENST00000674139.1:c.-179C>T ENSP00000501054.1:n.-179C>T
ENST00000674140.1:n.968C>T
ENST00000674146.1:c.-179C>T ENSP00000501175.1:n.-179C>T
ENST00000674149.1:c.-179C>T ENSP00000501112.1:n.-179C>T
ENST00000318023.11:c.1673C>T ENSP00000326281.8:p.Ser558Leu
ENST00000337571.8:c.-81-1076C>T ENSP00000336840.4:n.-81-1076C>T
ENST00000349748.7:c.1639-1076C>T ENSP00000183936.4:n.1639-1076C>T
ENST00000356316.7:c.-90-1067C>T ENSP00000348667.4:n.-90-1067C>T
ENST00000357568.7:c.1799C>T ENSP00000350181.3:p.Ser600Leu
ENST00000397163.7:c.1817C>T ENSP00000380349.3:p.Ser606Leu
ENST00000397200.8:c.281C>T ENSP00000380384.4:p.Ser94Leu
ENST00000397204.8:c.-81-1076C>T ENSP00000380387.4:n.-81-1076C>T
ENST00000561817.5:c.-81-1076C>T ENSP00000456575.1:n.-81-1076C>T
ENST00000565173.1:n.146C>T
ENST00000565274.5:c.29C>T ENSP00000457759.1:p.Ser10Leu
ENST00000565559.5:c.-115C>T ENSP00000457878.1:n.-115C>T
ENST00000567071.5:c.276C>T
ENST00000569136.5:c.-179C>T ENSP00000455254.1:n.-179C>T
ENST00000569827.5:c.247-1076C>T ENSP00000454379.1:n.247-1076C>T
NM_000070.2:c.1817C>T NP_000061.1:p.Ser606Leu
NM_024344.1:c.1799C>T NP_077320.1:p.Ser600Leu
NM_173087.1:c.1639-1076C>T NP_775110.1:n.1639-1076C>T
NM_173088.1:c.281C>T NP_775111.1:p.Ser94Leu
NM_173089.1:c.-81-1076C>T NP_775112.1:n.-81-1076C>T
NM_173090.1:c.-81-1076C>T NP_775113.1:n.-81-1076C>T
NM_000070.3:c.1817C>T MANE Select NP_000061.1:p.Ser606Leu
NM_024344.2:c.1799C>T NP_077320.1:p.Ser600Leu
NM_173087.2:c.1639-1076C>T NP_775110.1:n.1639-1076C>T
NM_173088.2:c.281C>T NP_775111.1:p.Ser94Leu
NM_173089.2:c.-81-1076C>T NP_775112.1:n.-81-1076C>T
NM_173090.2:c.-81-1076C>T NP_775113.1:n.-81-1076C>T