Canonical Allele Identifier: CA392002136

Gene: CAPN3

Linked Data

• dbSNP Id: rs745494652
• gnomAD v2: 15-42703164-C-A
• gnomAD v3: 15-42410966-C-A
• gnomAD v4: 15-42410966-C-A
• MyVariant Identifiers: chr15:g.42703164C>A (hg19) ; chr15:g.42410966C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42410966C>A , CM000677.2:g.42410966C>A	GRCh38
NC_000015.9:g.42703164C>A , CM000677.1:g.42703164C>A	GRCh37
NC_000015.8:g.40490456C>A	NCBI36
NG_008660.1:g.67864C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000337571.9:c.351C>A	ENSP00000336840.4:p.Phe117Leu
ENST00000349748.8:c.2070C>A	ENSP00000183936.4:p.Phe690Leu
ENST00000357568.8:c.2328C>A	ENSP00000350181.3:p.Phe776Leu
ENST00000397163.8:c.2346C>A MANE Select	ENSP00000380349.3:p.Phe782Leu
ENST00000397204.9:c.351C>A	ENSP00000380387.4:p.Phe117Leu
ENST00000466222.7:n.751+40C>A
ENST00000466369.5:n.2837C>A
ENST00000495723.1:n.3217C>A
ENST00000549793.5:n.2559C>A
ENST00000562199.2:c.350C>A	ENSP00000501034.1:n.350C>A
ENST00000567817.6:c.135C>A	ENSP00000456514.2:p.Phe45Leu
ENST00000568153.2:c.212C>A
ENST00000569136.6:c.351C>A	ENSP00000455254.1:p.Phe117Leu
ENST00000638141.2:n.2085C>A
ENST00000673646.1:c.910C>A	ENSP00000501007.1:n.910C>A
ENST00000673684.1:n.328C>A
ENST00000673692.1:c.351C>A	ENSP00000501138.1:p.Phe117Leu
ENST00000673705.1:c.889C>A	ENSP00000501021.1:n.889C>A
ENST00000673743.1:c.249C>A	ENSP00000500989.1:p.Phe83Leu
ENST00000673750.1:c.351C>A	ENSP00000501173.1:p.Phe117Leu
ENST00000673771.1:c.351C>A	ENSP00000501023.1:p.Phe117Leu
ENST00000673774.1:n.1479C>A
ENST00000673839.1:c.351C>A	ENSP00000501188.1:p.Phe117Leu
ENST00000673851.1:c.351C>A	ENSP00000501142.1:p.Phe117Leu
ENST00000673854.1:n.5768C>A
ENST00000673886.1:c.351C>A	ENSP00000501155.1:p.Phe117Leu
ENST00000673890.1:c.351C>A	ENSP00000501293.1:p.Phe117Leu
ENST00000673928.1:c.351C>A	ENSP00000501099.1:p.Phe117Leu
ENST00000673936.1:c.351C>A	ENSP00000501189.1:p.Phe117Leu
ENST00000673939.1:c.*100+40C>A	ENSP00000501129.1:n.*100+40C>A
ENST00000673950.1:n.620C>A
ENST00000673978.1:c.489C>A	ENSP00000500976.1:p.Phe163Leu
ENST00000673987.1:c.*100+40C>A	ENSP00000501231.1:n.*100+40C>A
ENST00000674011.1:c.*140C>A	ENSP00000501171.1:n.*140C>A
ENST00000674018.1:c.351C>A	ENSP00000501271.1:p.Phe117Leu
ENST00000674027.1:n.497C>A
ENST00000674041.1:c.351C>A	ENSP00000500956.1:p.Phe117Leu
ENST00000674052.1:c.570C>A	ENSP00000501057.1:p.Phe190Leu
ENST00000674093.1:c.351C>A	ENSP00000501303.1:p.Phe117Leu
ENST00000674119.1:c.351C>A	ENSP00000501217.1:p.Phe117Leu
ENST00000674135.1:c.528C>A	ENSP00000501178.1:p.Phe176Leu
ENST00000674139.1:c.351C>A	ENSP00000501054.1:p.Phe117Leu
ENST00000674146.1:c.351C>A	ENSP00000501175.1:p.Phe117Leu
ENST00000674149.1:c.351C>A	ENSP00000501112.1:p.Phe117Leu
ENST00000318023.11:c.2202C>A	ENSP00000326281.8:p.Phe734Leu
ENST00000337571.8:c.351C>A	ENSP00000336840.4:p.Phe117Leu
ENST00000349748.7:c.2070C>A	ENSP00000183936.4:p.Phe690Leu
ENST00000356316.7:c.351C>A	ENSP00000348667.4:p.Phe117Leu
ENST00000357568.7:c.2328C>A	ENSP00000350181.3:p.Phe776Leu
ENST00000397163.7:c.2346C>A	ENSP00000380349.3:p.Phe782Leu
ENST00000397200.8:c.810C>A	ENSP00000380384.4:p.Phe270Leu
ENST00000397204.8:c.351C>A	ENSP00000380387.4:p.Phe117Leu
ENST00000466222.6:n.1269C>A
ENST00000561817.5:c.351C>A	ENSP00000456575.1:p.Phe117Leu
ENST00000562199.1:n.350C>A
ENST00000564503.5:c.389C>A
ENST00000565274.5:c.524C>A	ENSP00000457759.1:n.524C>A
ENST00000567817.5:c.162C>A	ENSP00000456514.1:p.Phe54Leu
ENST00000568153.1:c.83C>A
ENST00000569136.5:c.351C>A	ENSP00000455254.1:p.Phe117Leu
ENST00000569827.5:c.678C>A	ENSP00000454379.1:p.Phe226Leu
NM_000070.2:c.2346C>A	NP_000061.1:p.Phe782Leu
NM_024344.1:c.2328C>A	NP_077320.1:p.Phe776Leu
NM_173087.1:c.2070C>A	NP_775110.1:p.Phe690Leu
NM_173088.1:c.810C>A	NP_775111.1:p.Phe270Leu
NM_173089.1:c.351C>A	NP_775112.1:p.Phe117Leu
NM_173090.1:c.351C>A	NP_775113.1:p.Phe117Leu
NM_000070.3:c.2346C>A MANE Select	NP_000061.1:p.Phe782Leu
NM_024344.2:c.2328C>A	NP_077320.1:p.Phe776Leu
NM_173087.2:c.2070C>A	NP_775110.1:p.Phe690Leu
NM_173088.2:c.810C>A	NP_775111.1:p.Phe270Leu
NM_173089.2:c.351C>A	NP_775112.1:p.Phe117Leu
NM_173090.2:c.351C>A	NP_775113.1:p.Phe117Leu