Canonical Allele Identifier: CA489885781

Gene: CAPN3

Linked Data

• dbSNP Id: rs2054156607
• gnomAD v3: 15-42409956-C-T
• gnomAD v4: 15-42409956-C-T
• MyVariant Identifiers: chr15:g.42702154C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42409956C>T , CM000677.2:g.42409956C>T	GRCh38
NC_000015.9:g.42702154C>T , CM000677.1:g.42702154C>T	GRCh37
NC_000015.8:g.40489446C>T	NCBI36
NG_008660.1:g.66854C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.81C>T	ENSP00000336840.4:p.Phe27=
ENST00000349748.8:c.1800C>T	ENSP00000183936.4:p.Phe600=
ENST00000357568.8:c.2058C>T	ENSP00000350181.3:p.Phe686=
ENST00000397163.8:c.2076C>T MANE Select	ENSP00000380349.3:p.Phe692=
ENST00000397204.9:c.81C>T	ENSP00000380387.4:p.Phe27=
ENST00000466222.7:n.341C>T
ENST00000466369.5:n.2567C>T
ENST00000495723.1:n.2947C>T
ENST00000549793.5:n.2289C>T
ENST00000562199.2:c.84C>T	ENSP00000501034.1:p.Phe28=
ENST00000569136.6:c.81C>T	ENSP00000455254.1:p.Phe27=
ENST00000638141.2:n.1815C>T
ENST00000673646.1:c.640C>T	ENSP00000501007.1:n.640C>T
ENST00000673687.1:n.153C>T
ENST00000673692.1:c.81C>T	ENSP00000501138.1:p.Phe27=
ENST00000673705.1:c.471C>T	ENSP00000501021.1:n.471C>T
ENST00000673743.1:c.-22C>T	ENSP00000500989.1:n.-22C>T
ENST00000673750.1:c.81C>T	ENSP00000501173.1:p.Phe27=
ENST00000673771.1:c.81C>T	ENSP00000501023.1:p.Phe27=
ENST00000673774.1:n.777C>T
ENST00000673839.1:c.81C>T	ENSP00000501188.1:p.Phe27=
ENST00000673851.1:c.81C>T	ENSP00000501142.1:p.Phe27=
ENST00000673854.1:n.5498C>T
ENST00000673886.1:c.81C>T	ENSP00000501155.1:p.Phe27=
ENST00000673890.1:c.81C>T	ENSP00000501293.1:p.Phe27=
ENST00000673928.1:c.81C>T	ENSP00000501099.1:p.Phe27=
ENST00000673936.1:c.81C>T	ENSP00000501189.1:p.Phe27=
ENST00000673939.1:c.81C>T	ENSP00000501129.1:p.Phe27=
ENST00000673950.1:n.350C>T
ENST00000673978.1:c.219C>T	ENSP00000500976.1:p.Phe73=
ENST00000673987.1:c.81C>T	ENSP00000501231.1:p.Phe27=
ENST00000674011.1:c.81C>T	ENSP00000501171.1:p.Phe27=
ENST00000674018.1:c.81C>T	ENSP00000501271.1:p.Phe27=
ENST00000674027.1:n.136C>T
ENST00000674041.1:c.81C>T	ENSP00000500956.1:p.Phe27=
ENST00000674052.1:c.300C>T	ENSP00000501057.1:p.Phe100=
ENST00000674093.1:c.81C>T	ENSP00000501303.1:p.Phe27=
ENST00000674119.1:c.81C>T	ENSP00000501217.1:p.Phe27=
ENST00000674130.1:n.294C>T
ENST00000674135.1:c.258C>T	ENSP00000501178.1:p.Phe86=
ENST00000674139.1:c.81C>T	ENSP00000501054.1:p.Phe27=
ENST00000674146.1:c.81C>T	ENSP00000501175.1:p.Phe27=
ENST00000674149.1:c.81C>T	ENSP00000501112.1:p.Phe27=
ENST00000318023.11:c.1932C>T	ENSP00000326281.8:p.Phe644=
ENST00000337571.8:c.81C>T	ENSP00000336840.4:p.Phe27=
ENST00000349748.7:c.1800C>T	ENSP00000183936.4:p.Phe600=
ENST00000356316.7:c.81C>T	ENSP00000348667.4:p.Phe27=
ENST00000357568.7:c.2058C>T	ENSP00000350181.3:p.Phe686=
ENST00000397163.7:c.2076C>T	ENSP00000380349.3:p.Phe692=
ENST00000397200.8:c.540C>T	ENSP00000380384.4:p.Phe180=
ENST00000397204.8:c.81C>T	ENSP00000380387.4:p.Phe27=
ENST00000466222.6:n.999C>T
ENST00000561817.5:c.81C>T	ENSP00000456575.1:p.Phe27=
ENST00000562199.1:n.84C>T
ENST00000564503.5:c.173C>T
ENST00000565274.5:c.288C>T	ENSP00000457759.1:p.Phe96=
ENST00000565559.5:c.258C>T	ENSP00000457878.1:p.Phe86=
ENST00000567071.5:c.556C>T
ENST00000569136.5:c.81C>T	ENSP00000455254.1:p.Phe27=
ENST00000569827.5:c.408C>T	ENSP00000454379.1:p.Phe136=
NM_000070.2:c.2076C>T	NP_000061.1:p.Phe692=
NM_024344.1:c.2058C>T	NP_077320.1:p.Phe686=
NM_173087.1:c.1800C>T	NP_775110.1:p.Phe600=
NM_173088.1:c.540C>T	NP_775111.1:p.Phe180=
NM_173089.1:c.81C>T	NP_775112.1:p.Phe27=
NM_173090.1:c.81C>T	NP_775113.1:p.Phe27=
NM_000070.3:c.2076C>T MANE Select	NP_000061.1:p.Phe692=
NM_024344.2:c.2058C>T	NP_077320.1:p.Phe686=
NM_173087.2:c.1800C>T	NP_775110.1:p.Phe600=
NM_173088.2:c.540C>T	NP_775111.1:p.Phe180=
NM_173089.2:c.81C>T	NP_775112.1:p.Phe27=
NM_173090.2:c.81C>T	NP_775113.1:p.Phe27=