Canonical Allele Identifier: CA712904942

Gene: CAPN3

Linked Data

• dbSNP Id: rs1285691406
• gnomAD v4: 15-42411386-C-T
• MyVariant Identifiers: chr15:g.42703584C>T (hg19) ; chr15:g.42411386C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42411386C>T , CM000677.2:g.42411386C>T	GRCh38
NC_000015.9:g.42703584C>T , CM000677.1:g.42703584C>T	GRCh37
NC_000015.8:g.40490876C>T	NCBI36
NG_008660.1:g.68284C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.444+41C>T	ENSP00000336840.4:n.444+41C>T
ENST00000349748.8:c.2163+41C>T	ENSP00000183936.4:n.2163+41C>T
ENST00000357568.8:c.2421+41C>T	ENSP00000350181.3:n.2421+41C>T
ENST00000397163.8:c.2439+41C>T MANE Select	ENSP00000380349.3:n.2439+41C>T
ENST00000397204.9:c.444+41C>T	ENSP00000380387.4:n.444+41C>T
ENST00000466222.7:n.810+41C>T
ENST00000466369.5:n.2930+41C>T
ENST00000495723.1:n.3310+41C>T
ENST00000549793.5:n.2652+41C>T
ENST00000562199.2:c.443+41C>T	ENSP00000501034.1:n.443+41C>T
ENST00000567817.6:c.228+41C>T	ENSP00000456514.2:n.228+41C>T
ENST00000568153.2:c.305+41C>T
ENST00000569136.6:c.444+41C>T	ENSP00000455254.1:n.444+41C>T
ENST00000638141.2:n.2178+41C>T
ENST00000673646.1:c.1003+41C>T	ENSP00000501007.1:n.1003+41C>T
ENST00000673684.1:n.462C>T
ENST00000673692.1:c.444+41C>T	ENSP00000501138.1:n.444+41C>T
ENST00000673705.1:c.1309C>T	ENSP00000501021.1:n.1309C>T
ENST00000673743.1:c.342+41C>T	ENSP00000500989.1:n.342+41C>T
ENST00000673750.1:c.444+41C>T	ENSP00000501173.1:n.444+41C>T
ENST00000673771.1:c.444+41C>T	ENSP00000501023.1:n.444+41C>T
ENST00000673774.1:n.1613C>T
ENST00000673851.1:c.444+41C>T	ENSP00000501142.1:n.444+41C>T
ENST00000673854.1:n.5861+41C>T
ENST00000673886.1:c.444+41C>T	ENSP00000501155.1:n.444+41C>T
ENST00000673890.1:c.444+41C>T	ENSP00000501293.1:n.444+41C>T
ENST00000673928.1:c.444+41C>T	ENSP00000501099.1:n.444+41C>T
ENST00000673936.1:c.444+41C>T	ENSP00000501189.1:n.444+41C>T
ENST00000673939.1:c.*159+41C>T	ENSP00000501129.1:n.*159+41C>T
ENST00000673950.1:n.713+41C>T
ENST00000673978.1:c.582+41C>T	ENSP00000500976.1:n.582+41C>T
ENST00000673987.1:c.*159+41C>T	ENSP00000501231.1:n.*159+41C>T
ENST00000674011.1:c.*233+41C>T	ENSP00000501171.1:n.*233+41C>T
ENST00000674018.1:c.444+41C>T	ENSP00000501271.1:n.444+41C>T
ENST00000674027.1:n.590+41C>T
ENST00000674041.1:c.485C>T	ENSP00000500956.1:p.Thr162Ile
ENST00000674052.1:c.663+41C>T	ENSP00000501057.1:n.663+41C>T
ENST00000674093.1:c.444+41C>T	ENSP00000501303.1:n.444+41C>T
ENST00000674119.1:c.444+41C>T	ENSP00000501217.1:n.444+41C>T
ENST00000674139.1:c.444+41C>T	ENSP00000501054.1:n.444+41C>T
ENST00000674146.1:c.444+41C>T	ENSP00000501175.1:n.444+41C>T
ENST00000674149.1:c.444+41C>T	ENSP00000501112.1:n.444+41C>T
ENST00000318023.11:c.2295+41C>T	ENSP00000326281.8:n.2295+41C>T
ENST00000337571.8:c.444+41C>T	ENSP00000336840.4:n.444+41C>T
ENST00000349748.7:c.2163+41C>T	ENSP00000183936.4:n.2163+41C>T
ENST00000356316.7:c.444+41C>T	ENSP00000348667.4:n.444+41C>T
ENST00000357568.7:c.2421+41C>T	ENSP00000350181.3:n.2421+41C>T
ENST00000397163.7:c.2439+41C>T	ENSP00000380349.3:n.2439+41C>T
ENST00000397200.8:c.903+41C>T	ENSP00000380384.4:n.903+41C>T
ENST00000397204.8:c.444+41C>T	ENSP00000380387.4:n.444+41C>T
ENST00000466222.6:n.1362+41C>T
ENST00000561817.5:c.444+41C>T	ENSP00000456575.1:n.444+41C>T
ENST00000564503.5:c.482+41C>T
ENST00000565274.5:c.617+41C>T	ENSP00000457759.1:n.617+41C>T
ENST00000567817.5:c.255+41C>T	ENSP00000456514.1:n.255+41C>T
ENST00000568153.1:c.176+41C>T
ENST00000569136.5:c.444+41C>T	ENSP00000455254.1:n.444+41C>T
NM_000070.2:c.2439+41C>T	NP_000061.1:n.2439+41C>T
NM_024344.1:c.2421+41C>T	NP_077320.1:n.2421+41C>T
NM_173087.1:c.2163+41C>T	NP_775110.1:n.2163+41C>T
NM_173088.1:c.903+41C>T	NP_775111.1:n.903+41C>T
NM_173089.1:c.444+41C>T	NP_775112.1:n.444+41C>T
NM_173090.1:c.444+41C>T	NP_775113.1:n.444+41C>T
NM_000070.3:c.2439+41C>T MANE Select	NP_000061.1:n.2439+41C>T
NM_024344.2:c.2421+41C>T	NP_077320.1:n.2421+41C>T
NM_173087.2:c.2163+41C>T	NP_775110.1:n.2163+41C>T
NM_173088.2:c.903+41C>T	NP_775111.1:n.903+41C>T
NM_173089.2:c.444+41C>T	NP_775112.1:n.444+41C>T
NM_173090.2:c.444+41C>T	NP_775113.1:n.444+41C>T