Canonical Allele Identifier: CA392001492

Gene: CAPN3

Linked Data

• MyVariant Identifiers: chr15:g.42702146C>T (hg19) ; chr15:g.42409948C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42409948C>T , CM000677.2:g.42409948C>T	GRCh38
NC_000015.9:g.42702146C>T , CM000677.1:g.42702146C>T	GRCh37
NC_000015.8:g.40489438C>T	NCBI36
NG_008660.1:g.66846C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.73C>T	ENSP00000336840.4:p.His25Tyr
ENST00000349748.8:c.1792C>T	ENSP00000183936.4:p.His598Tyr
ENST00000357568.8:c.2050C>T	ENSP00000350181.3:p.His684Tyr
ENST00000397163.8:c.2068C>T MANE Select	ENSP00000380349.3:p.His690Tyr
ENST00000397204.9:c.73C>T	ENSP00000380387.4:p.His25Tyr
ENST00000466222.7:n.333C>T
ENST00000466369.5:n.2559C>T
ENST00000495723.1:n.2939C>T
ENST00000549793.5:n.2281C>T
ENST00000562199.2:c.76C>T	ENSP00000501034.1:p.His26Tyr
ENST00000569136.6:c.73C>T	ENSP00000455254.1:p.His25Tyr
ENST00000638141.2:n.1807C>T
ENST00000673646.1:c.632C>T	ENSP00000501007.1:n.632C>T
ENST00000673687.1:n.145C>T
ENST00000673692.1:c.73C>T	ENSP00000501138.1:p.His25Tyr
ENST00000673705.1:c.463C>T	ENSP00000501021.1:n.463C>T
ENST00000673743.1:c.-30C>T	ENSP00000500989.1:n.-30C>T
ENST00000673750.1:c.73C>T	ENSP00000501173.1:p.His25Tyr
ENST00000673771.1:c.73C>T	ENSP00000501023.1:p.His25Tyr
ENST00000673774.1:n.769C>T
ENST00000673839.1:c.73C>T	ENSP00000501188.1:p.His25Tyr
ENST00000673851.1:c.73C>T	ENSP00000501142.1:p.His25Tyr
ENST00000673854.1:n.5490C>T
ENST00000673886.1:c.73C>T	ENSP00000501155.1:p.His25Tyr
ENST00000673890.1:c.73C>T	ENSP00000501293.1:p.His25Tyr
ENST00000673928.1:c.73C>T	ENSP00000501099.1:p.His25Tyr
ENST00000673936.1:c.73C>T	ENSP00000501189.1:p.His25Tyr
ENST00000673939.1:c.73C>T	ENSP00000501129.1:p.His25Tyr
ENST00000673950.1:n.342C>T
ENST00000673978.1:c.211C>T	ENSP00000500976.1:p.His71Tyr
ENST00000673987.1:c.73C>T	ENSP00000501231.1:p.His25Tyr
ENST00000674011.1:c.73C>T	ENSP00000501171.1:p.His25Tyr
ENST00000674018.1:c.73C>T	ENSP00000501271.1:p.His25Tyr
ENST00000674027.1:n.128C>T
ENST00000674041.1:c.73C>T	ENSP00000500956.1:p.His25Tyr
ENST00000674052.1:c.292C>T	ENSP00000501057.1:p.His98Tyr
ENST00000674093.1:c.73C>T	ENSP00000501303.1:p.His25Tyr
ENST00000674119.1:c.73C>T	ENSP00000501217.1:p.His25Tyr
ENST00000674130.1:n.286C>T
ENST00000674135.1:c.250C>T	ENSP00000501178.1:p.His84Tyr
ENST00000674139.1:c.73C>T	ENSP00000501054.1:p.His25Tyr
ENST00000674146.1:c.73C>T	ENSP00000501175.1:p.His25Tyr
ENST00000674149.1:c.73C>T	ENSP00000501112.1:p.His25Tyr
ENST00000318023.11:c.1924C>T	ENSP00000326281.8:p.His642Tyr
ENST00000337571.8:c.73C>T	ENSP00000336840.4:p.His25Tyr
ENST00000349748.7:c.1792C>T	ENSP00000183936.4:p.His598Tyr
ENST00000356316.7:c.73C>T	ENSP00000348667.4:p.His25Tyr
ENST00000357568.7:c.2050C>T	ENSP00000350181.3:p.His684Tyr
ENST00000397163.7:c.2068C>T	ENSP00000380349.3:p.His690Tyr
ENST00000397200.8:c.532C>T	ENSP00000380384.4:p.His178Tyr
ENST00000397204.8:c.73C>T	ENSP00000380387.4:p.His25Tyr
ENST00000466222.6:n.991C>T
ENST00000561817.5:c.73C>T	ENSP00000456575.1:p.His25Tyr
ENST00000562199.1:n.76C>T
ENST00000564503.5:c.165C>T
ENST00000565274.5:c.280C>T	ENSP00000457759.1:p.His94Tyr
ENST00000565559.5:c.250C>T	ENSP00000457878.1:p.His84Tyr
ENST00000567071.5:c.548C>T
ENST00000569136.5:c.73C>T	ENSP00000455254.1:p.His25Tyr
ENST00000569827.5:c.400C>T	ENSP00000454379.1:p.His134Tyr
NM_000070.2:c.2068C>T	NP_000061.1:p.His690Tyr
NM_024344.1:c.2050C>T	NP_077320.1:p.His684Tyr
NM_173087.1:c.1792C>T	NP_775110.1:p.His598Tyr
NM_173088.1:c.532C>T	NP_775111.1:p.His178Tyr
NM_173089.1:c.73C>T	NP_775112.1:p.His25Tyr
NM_173090.1:c.73C>T	NP_775113.1:p.His25Tyr
NM_000070.3:c.2068C>T MANE Select	NP_000061.1:p.His690Tyr
NM_024344.2:c.2050C>T	NP_077320.1:p.His684Tyr
NM_173087.2:c.1792C>T	NP_775110.1:p.His598Tyr
NM_173088.2:c.532C>T	NP_775111.1:p.His178Tyr
NM_173089.2:c.73C>T	NP_775112.1:p.His25Tyr
NM_173090.2:c.73C>T	NP_775113.1:p.His25Tyr