Canonical Allele Identifier: CA392001681

Gene: CAPN3

Linked Data

• MyVariant Identifiers: chr15:g.42702663A>T (hg19) ; chr15:g.42410465A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42410465A>T , CM000677.2:g.42410465A>T	GRCh38
NC_000015.9:g.42702663A>T , CM000677.1:g.42702663A>T	GRCh37
NC_000015.8:g.40489955A>T	NCBI36
NG_008660.1:g.67363A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.158A>T	ENSP00000336840.4:p.His53Leu
ENST00000349748.8:c.1877A>T	ENSP00000183936.4:p.His626Leu
ENST00000357568.8:c.2135A>T	ENSP00000350181.3:p.His712Leu
ENST00000397163.8:c.2153A>T MANE Select	ENSP00000380349.3:p.His718Leu
ENST00000397204.9:c.158A>T	ENSP00000380387.4:p.His53Leu
ENST00000466222.7:n.418A>T
ENST00000466369.5:n.2644A>T
ENST00000495723.1:n.3024A>T
ENST00000549793.5:n.2366A>T
ENST00000562199.2:c.157A>T	ENSP00000501034.1:p.Thr53Ser
ENST00000568153.2:c.19A>T
ENST00000569136.6:c.158A>T	ENSP00000455254.1:p.His53Leu
ENST00000638141.2:n.1892A>T
ENST00000673646.1:c.717A>T	ENSP00000501007.1:n.717A>T
ENST00000673684.1:n.135A>T
ENST00000673687.1:n.662A>T
ENST00000673692.1:c.158A>T	ENSP00000501138.1:p.His53Leu
ENST00000673705.1:c.511-123A>T	ENSP00000501021.1:n.511-123A>T
ENST00000673743.1:c.56A>T	ENSP00000500989.1:p.His19Leu
ENST00000673750.1:c.158A>T	ENSP00000501173.1:p.His53Leu
ENST00000673771.1:c.158A>T	ENSP00000501023.1:p.His53Leu
ENST00000673774.1:n.1286A>T
ENST00000673839.1:c.158A>T	ENSP00000501188.1:p.His53Leu
ENST00000673851.1:c.158A>T	ENSP00000501142.1:p.His53Leu
ENST00000673854.1:n.5575A>T
ENST00000673886.1:c.158A>T	ENSP00000501155.1:p.His53Leu
ENST00000673890.1:c.158A>T	ENSP00000501293.1:p.His53Leu
ENST00000673893.1:c.356A>T	ENSP00000500987.1:n.356A>T
ENST00000673928.1:c.158A>T	ENSP00000501099.1:p.His53Leu
ENST00000673936.1:c.158A>T	ENSP00000501189.1:p.His53Leu
ENST00000673939.1:c.158A>T	ENSP00000501129.1:p.His53Leu
ENST00000673950.1:n.427A>T
ENST00000673978.1:c.296A>T	ENSP00000500976.1:p.His99Leu
ENST00000673987.1:c.158A>T	ENSP00000501231.1:p.His53Leu
ENST00000674011.1:c.158A>T	ENSP00000501171.1:p.His53Leu
ENST00000674018.1:c.158A>T	ENSP00000501271.1:p.His53Leu
ENST00000674027.1:n.213A>T
ENST00000674041.1:c.158A>T	ENSP00000500956.1:p.His53Leu
ENST00000674052.1:c.377A>T	ENSP00000501057.1:p.His126Leu
ENST00000674093.1:c.158A>T	ENSP00000501303.1:p.His53Leu
ENST00000674119.1:c.158A>T	ENSP00000501217.1:p.His53Leu
ENST00000674135.1:c.335A>T	ENSP00000501178.1:p.His112Leu
ENST00000674139.1:c.158A>T	ENSP00000501054.1:p.His53Leu
ENST00000674146.1:c.158A>T	ENSP00000501175.1:p.His53Leu
ENST00000674149.1:c.158A>T	ENSP00000501112.1:p.His53Leu
ENST00000318023.11:c.2009A>T	ENSP00000326281.8:p.His670Leu
ENST00000337571.8:c.158A>T	ENSP00000336840.4:p.His53Leu
ENST00000349748.7:c.1877A>T	ENSP00000183936.4:p.His626Leu
ENST00000356316.7:c.158A>T	ENSP00000348667.4:p.His53Leu
ENST00000357568.7:c.2135A>T	ENSP00000350181.3:p.His712Leu
ENST00000397163.7:c.2153A>T	ENSP00000380349.3:p.His718Leu
ENST00000397200.8:c.617A>T	ENSP00000380384.4:p.His206Leu
ENST00000397204.8:c.158A>T	ENSP00000380387.4:p.His53Leu
ENST00000466222.6:n.1076A>T
ENST00000561817.5:c.158A>T	ENSP00000456575.1:p.His53Leu
ENST00000562199.1:n.157A>T
ENST00000564503.5:c.250A>T
ENST00000565274.5:c.385A>T	ENSP00000457759.1:n.385A>T
ENST00000565559.5:c.335A>T	ENSP00000457878.1:p.His112Leu
ENST00000569136.5:c.158A>T	ENSP00000455254.1:p.His53Leu
ENST00000569827.5:c.485A>T	ENSP00000454379.1:p.His162Leu
NM_000070.2:c.2153A>T	NP_000061.1:p.His718Leu
NM_024344.1:c.2135A>T	NP_077320.1:p.His712Leu
NM_173087.1:c.1877A>T	NP_775110.1:p.His626Leu
NM_173088.1:c.617A>T	NP_775111.1:p.His206Leu
NM_173089.1:c.158A>T	NP_775112.1:p.His53Leu
NM_173090.1:c.158A>T	NP_775113.1:p.His53Leu
NM_000070.3:c.2153A>T MANE Select	NP_000061.1:p.His718Leu
NM_024344.2:c.2135A>T	NP_077320.1:p.His712Leu
NM_173087.2:c.1877A>T	NP_775110.1:p.His626Leu
NM_173088.2:c.617A>T	NP_775111.1:p.His206Leu
NM_173089.2:c.158A>T	NP_775112.1:p.His53Leu
NM_173090.2:c.158A>T	NP_775113.1:p.His53Leu