Canonical Allele Identifier: CA2628042311

Gene: CAPN3

Linked Data

• gnomAD v4: 15-42410353-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42410353G>T , CM000677.2:g.42410353G>T	GRCh38
NC_000015.9:g.42702551G>T , CM000677.1:g.42702551G>T	GRCh37
NC_000015.8:g.40489843G>T	NCBI36
NG_008660.1:g.67251G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000337571.9:c.121-75G>T	ENSP00000336840.4:n.121-75G>T
ENST00000349748.8:c.1840-75G>T	ENSP00000183936.4:n.1840-75G>T
ENST00000357568.8:c.2098-75G>T	ENSP00000350181.3:n.2098-75G>T
ENST00000397163.8:c.2116-75G>T MANE Select	ENSP00000380349.3:n.2116-75G>T
ENST00000397204.9:c.121-75G>T	ENSP00000380387.4:n.121-75G>T
ENST00000466222.7:n.381-75G>T
ENST00000466369.5:n.2607-75G>T
ENST00000495723.1:n.2987-75G>T
ENST00000549793.5:n.2329-75G>T
ENST00000562199.2:c.124-79G>T	ENSP00000501034.1:n.124-79G>T
ENST00000569136.6:c.121-75G>T	ENSP00000455254.1:n.121-75G>T
ENST00000638141.2:n.1855-75G>T
ENST00000673646.1:c.680-75G>T	ENSP00000501007.1:n.680-75G>T
ENST00000673684.1:n.23G>T
ENST00000673687.1:n.550G>T
ENST00000673692.1:c.121-75G>T	ENSP00000501138.1:n.121-75G>T
ENST00000673705.1:c.511-235G>T	ENSP00000501021.1:n.511-235G>T
ENST00000673743.1:c.19-75G>T	ENSP00000500989.1:n.19-75G>T
ENST00000673750.1:c.121-75G>T	ENSP00000501173.1:n.121-75G>T
ENST00000673771.1:c.121-75G>T	ENSP00000501023.1:n.121-75G>T
ENST00000673774.1:n.1174G>T
ENST00000673839.1:c.121-75G>T	ENSP00000501188.1:n.121-75G>T
ENST00000673851.1:c.121-75G>T	ENSP00000501142.1:n.121-75G>T
ENST00000673854.1:n.5538-75G>T
ENST00000673886.1:c.121-75G>T	ENSP00000501155.1:n.121-75G>T
ENST00000673890.1:c.121-75G>T	ENSP00000501293.1:n.121-75G>T
ENST00000673893.1:c.319-75G>T	ENSP00000500987.1:n.319-75G>T
ENST00000673928.1:c.121-75G>T	ENSP00000501099.1:n.121-75G>T
ENST00000673936.1:c.121-75G>T	ENSP00000501189.1:n.121-75G>T
ENST00000673939.1:c.121-75G>T	ENSP00000501129.1:n.121-75G>T
ENST00000673950.1:n.390-75G>T
ENST00000673978.1:c.259-75G>T	ENSP00000500976.1:n.259-75G>T
ENST00000673987.1:c.121-75G>T	ENSP00000501231.1:n.121-75G>T
ENST00000674011.1:c.121-75G>T	ENSP00000501171.1:n.121-75G>T
ENST00000674018.1:c.121-75G>T	ENSP00000501271.1:n.121-75G>T
ENST00000674027.1:n.176-75G>T
ENST00000674041.1:c.121-75G>T	ENSP00000500956.1:n.121-75G>T
ENST00000674052.1:c.340-75G>T	ENSP00000501057.1:n.340-75G>T
ENST00000674093.1:c.121-75G>T	ENSP00000501303.1:n.121-75G>T
ENST00000674119.1:c.121-75G>T	ENSP00000501217.1:n.121-75G>T
ENST00000674130.1:n.691G>T
ENST00000674135.1:c.298-75G>T	ENSP00000501178.1:n.298-75G>T
ENST00000674139.1:c.121-75G>T	ENSP00000501054.1:n.121-75G>T
ENST00000674146.1:c.121-75G>T	ENSP00000501175.1:n.121-75G>T
ENST00000674149.1:c.121-75G>T	ENSP00000501112.1:n.121-75G>T
ENST00000318023.11:c.1972-75G>T	ENSP00000326281.8:n.1972-75G>T
ENST00000337571.8:c.121-75G>T	ENSP00000336840.4:n.121-75G>T
ENST00000349748.7:c.1840-75G>T	ENSP00000183936.4:n.1840-75G>T
ENST00000356316.7:c.121-75G>T	ENSP00000348667.4:n.121-75G>T
ENST00000357568.7:c.2098-75G>T	ENSP00000350181.3:n.2098-75G>T
ENST00000397163.7:c.2116-75G>T	ENSP00000380349.3:n.2116-75G>T
ENST00000397200.8:c.580-75G>T	ENSP00000380384.4:n.580-75G>T
ENST00000397204.8:c.121-75G>T	ENSP00000380387.4:n.121-75G>T
ENST00000466222.6:n.1039-75G>T
ENST00000561817.5:c.121-75G>T	ENSP00000456575.1:n.121-75G>T
ENST00000562199.1:n.124-79G>T
ENST00000564503.5:c.213-75G>T
ENST00000565274.5:c.328-55G>T	ENSP00000457759.1:n.328-55G>T
ENST00000565559.5:c.298-75G>T	ENSP00000457878.1:n.298-75G>T
ENST00000569136.5:c.121-75G>T	ENSP00000455254.1:n.121-75G>T
ENST00000569827.5:c.448-75G>T	ENSP00000454379.1:n.448-75G>T
NM_000070.2:c.2116-75G>T	NP_000061.1:n.2116-75G>T
NM_024344.1:c.2098-75G>T	NP_077320.1:n.2098-75G>T
NM_173087.1:c.1840-75G>T	NP_775110.1:n.1840-75G>T
NM_173088.1:c.580-75G>T	NP_775111.1:n.580-75G>T
NM_173089.1:c.121-75G>T	NP_775112.1:n.121-75G>T
NM_173090.1:c.121-75G>T	NP_775113.1:n.121-75G>T
NM_000070.3:c.2116-75G>T MANE Select	NP_000061.1:n.2116-75G>T
NM_024344.2:c.2098-75G>T	NP_077320.1:n.2098-75G>T
NM_173087.2:c.1840-75G>T	NP_775110.1:n.1840-75G>T
NM_173088.2:c.580-75G>T	NP_775111.1:n.580-75G>T
NM_173089.2:c.121-75G>T	NP_775112.1:n.121-75G>T
NM_173090.2:c.121-75G>T	NP_775113.1:n.121-75G>T