Canonical Allele Identifier: CA392002265

Gene: CAPN3

Linked Data

• MyVariant Identifiers: chr15:g.42703502G>T (hg19) ; chr15:g.42411304G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42411304G>T , CM000677.2:g.42411304G>T	GRCh38
NC_000015.9:g.42703502G>T , CM000677.1:g.42703502G>T	GRCh37
NC_000015.8:g.40490794G>T	NCBI36
NG_008660.1:g.68202G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.403G>T	ENSP00000336840.4:p.Asp135Tyr
ENST00000349748.8:c.2122G>T	ENSP00000183936.4:p.Asp708Tyr
ENST00000357568.8:c.2380G>T	ENSP00000350181.3:p.Asp794Tyr
ENST00000397163.8:c.2398G>T MANE Select	ENSP00000380349.3:p.Asp800Tyr
ENST00000397204.9:c.403G>T	ENSP00000380387.4:p.Asp135Tyr
ENST00000466222.7:n.769G>T
ENST00000466369.5:n.2889G>T
ENST00000495723.1:n.3269G>T
ENST00000549793.5:n.2611G>T
ENST00000562199.2:c.402G>T	ENSP00000501034.1:n.402G>T
ENST00000567817.6:c.187G>T	ENSP00000456514.2:p.Asp63Tyr
ENST00000568153.2:c.264G>T
ENST00000569136.6:c.403G>T	ENSP00000455254.1:p.Asp135Tyr
ENST00000638141.2:n.2137G>T
ENST00000673646.1:c.962G>T	ENSP00000501007.1:n.962G>T
ENST00000673684.1:n.380G>T
ENST00000673692.1:c.403G>T	ENSP00000501138.1:p.Asp135Tyr
ENST00000673705.1:c.1227G>T	ENSP00000501021.1:n.1227G>T
ENST00000673743.1:c.301G>T	ENSP00000500989.1:p.Asp101Tyr
ENST00000673750.1:c.403G>T	ENSP00000501173.1:p.Asp135Tyr
ENST00000673771.1:c.403G>T	ENSP00000501023.1:p.Asp135Tyr
ENST00000673774.1:n.1531G>T
ENST00000673839.1:c.403G>T	ENSP00000501188.1:p.Asp135Tyr
ENST00000673851.1:c.403G>T	ENSP00000501142.1:p.Asp135Tyr
ENST00000673854.1:n.5820G>T
ENST00000673886.1:c.403G>T	ENSP00000501155.1:p.Asp135Tyr
ENST00000673890.1:c.403G>T	ENSP00000501293.1:p.Asp135Tyr
ENST00000673928.1:c.403G>T	ENSP00000501099.1:p.Asp135Tyr
ENST00000673936.1:c.403G>T	ENSP00000501189.1:p.Asp135Tyr
ENST00000673939.1:c.*118G>T	ENSP00000501129.1:n.*118G>T
ENST00000673950.1:n.672G>T
ENST00000673978.1:c.541G>T	ENSP00000500976.1:p.Asp181Tyr
ENST00000673987.1:c.*118G>T	ENSP00000501231.1:n.*118G>T
ENST00000674011.1:c.*192G>T	ENSP00000501171.1:n.*192G>T
ENST00000674018.1:c.403G>T	ENSP00000501271.1:p.Asp135Tyr
ENST00000674027.1:n.549G>T
ENST00000674041.1:c.403G>T	ENSP00000500956.1:p.Asp135Tyr
ENST00000674052.1:c.622G>T	ENSP00000501057.1:p.Asp208Tyr
ENST00000674093.1:c.403G>T	ENSP00000501303.1:p.Asp135Tyr
ENST00000674119.1:c.403G>T	ENSP00000501217.1:p.Asp135Tyr
ENST00000674135.1:c.580G>T	ENSP00000501178.1:p.Asp194Tyr
ENST00000674139.1:c.403G>T	ENSP00000501054.1:p.Asp135Tyr
ENST00000674146.1:c.403G>T	ENSP00000501175.1:p.Asp135Tyr
ENST00000674149.1:c.403G>T	ENSP00000501112.1:p.Asp135Tyr
ENST00000318023.11:c.2254G>T	ENSP00000326281.8:p.Asp752Tyr
ENST00000337571.8:c.403G>T	ENSP00000336840.4:p.Asp135Tyr
ENST00000349748.7:c.2122G>T	ENSP00000183936.4:p.Asp708Tyr
ENST00000356316.7:c.403G>T	ENSP00000348667.4:p.Asp135Tyr
ENST00000357568.7:c.2380G>T	ENSP00000350181.3:p.Asp794Tyr
ENST00000397163.7:c.2398G>T	ENSP00000380349.3:p.Asp800Tyr
ENST00000397200.8:c.862G>T	ENSP00000380384.4:p.Asp288Tyr
ENST00000397204.8:c.403G>T	ENSP00000380387.4:p.Asp135Tyr
ENST00000466222.6:n.1321G>T
ENST00000561817.5:c.403G>T	ENSP00000456575.1:p.Asp135Tyr
ENST00000564503.5:c.441G>T
ENST00000565274.5:c.576G>T	ENSP00000457759.1:n.576G>T
ENST00000567817.5:c.214G>T	ENSP00000456514.1:p.Asp72Tyr
ENST00000568153.1:c.135G>T
ENST00000569136.5:c.403G>T	ENSP00000455254.1:p.Asp135Tyr
ENST00000569827.5:c.730G>T	ENSP00000454379.1:p.Asp244Tyr
NM_000070.2:c.2398G>T	NP_000061.1:p.Asp800Tyr
NM_024344.1:c.2380G>T	NP_077320.1:p.Asp794Tyr
NM_173087.1:c.2122G>T	NP_775110.1:p.Asp708Tyr
NM_173088.1:c.862G>T	NP_775111.1:p.Asp288Tyr
NM_173089.1:c.403G>T	NP_775112.1:p.Asp135Tyr
NM_173090.1:c.403G>T	NP_775113.1:p.Asp135Tyr
NM_000070.3:c.2398G>T MANE Select	NP_000061.1:p.Asp800Tyr
NM_024344.2:c.2380G>T	NP_077320.1:p.Asp794Tyr
NM_173087.2:c.2122G>T	NP_775110.1:p.Asp708Tyr
NM_173088.2:c.862G>T	NP_775111.1:p.Asp288Tyr
NM_173089.2:c.403G>T	NP_775112.1:p.Asp135Tyr
NM_173090.2:c.403G>T	NP_775113.1:p.Asp135Tyr