Canonical Allele Identifier: CA489886008

Gene: CAPN3

Linked Data

• dbSNP Id: rs1473459900
• gnomAD v3: 15-42411324-C-A
• gnomAD v4: 15-42411324-C-A
• MyVariant Identifiers: chr15:g.42703522C>A (hg19) ; chr15:g.42411324C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42411324C>A , CM000677.2:g.42411324C>A	GRCh38
NC_000015.9:g.42703522C>A , CM000677.1:g.42703522C>A	GRCh37
NC_000015.8:g.40490814C>A	NCBI36
NG_008660.1:g.68222C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.423C>A	ENSP00000336840.4:p.Ile141=
ENST00000349748.8:c.2142C>A	ENSP00000183936.4:p.Ile714=
ENST00000357568.8:c.2400C>A	ENSP00000350181.3:p.Ile800=
ENST00000397163.8:c.2418C>A MANE Select	ENSP00000380349.3:p.Ile806=
ENST00000397204.9:c.423C>A	ENSP00000380387.4:p.Ile141=
ENST00000466222.7:n.789C>A
ENST00000466369.5:n.2909C>A
ENST00000495723.1:n.3289C>A
ENST00000549793.5:n.2631C>A
ENST00000562199.2:c.422C>A	ENSP00000501034.1:n.422C>A
ENST00000567817.6:c.207C>A	ENSP00000456514.2:p.Ile69=
ENST00000568153.2:c.284C>A
ENST00000569136.6:c.423C>A	ENSP00000455254.1:p.Ile141=
ENST00000638141.2:n.2157C>A
ENST00000673646.1:c.982C>A	ENSP00000501007.1:n.982C>A
ENST00000673684.1:n.400C>A
ENST00000673692.1:c.423C>A	ENSP00000501138.1:p.Ile141=
ENST00000673705.1:c.1247C>A	ENSP00000501021.1:n.1247C>A
ENST00000673743.1:c.321C>A	ENSP00000500989.1:p.Ile107=
ENST00000673750.1:c.423C>A	ENSP00000501173.1:p.Ile141=
ENST00000673771.1:c.423C>A	ENSP00000501023.1:p.Ile141=
ENST00000673774.1:n.1551C>A
ENST00000673839.1:c.423C>A	ENSP00000501188.1:p.Ile141=
ENST00000673851.1:c.423C>A	ENSP00000501142.1:p.Ile141=
ENST00000673854.1:n.5840C>A
ENST00000673886.1:c.423C>A	ENSP00000501155.1:p.Ile141=
ENST00000673890.1:c.423C>A	ENSP00000501293.1:p.Ile141=
ENST00000673928.1:c.423C>A	ENSP00000501099.1:p.Ile141=
ENST00000673936.1:c.423C>A	ENSP00000501189.1:p.Ile141=
ENST00000673939.1:c.*138C>A	ENSP00000501129.1:n.*138C>A
ENST00000673950.1:n.692C>A
ENST00000673978.1:c.561C>A	ENSP00000500976.1:p.Ile187=
ENST00000673987.1:c.*138C>A	ENSP00000501231.1:n.*138C>A
ENST00000674011.1:c.*212C>A	ENSP00000501171.1:n.*212C>A
ENST00000674018.1:c.423C>A	ENSP00000501271.1:p.Ile141=
ENST00000674027.1:n.569C>A
ENST00000674041.1:c.423C>A	ENSP00000500956.1:p.Ile141=
ENST00000674052.1:c.642C>A	ENSP00000501057.1:p.Ile214=
ENST00000674093.1:c.423C>A	ENSP00000501303.1:p.Ile141=
ENST00000674119.1:c.423C>A	ENSP00000501217.1:p.Ile141=
ENST00000674135.1:c.600C>A	ENSP00000501178.1:p.Ile200=
ENST00000674139.1:c.423C>A	ENSP00000501054.1:p.Ile141=
ENST00000674146.1:c.423C>A	ENSP00000501175.1:p.Ile141=
ENST00000674149.1:c.423C>A	ENSP00000501112.1:p.Ile141=
ENST00000318023.11:c.2274C>A	ENSP00000326281.8:p.Ile758=
ENST00000337571.8:c.423C>A	ENSP00000336840.4:p.Ile141=
ENST00000349748.7:c.2142C>A	ENSP00000183936.4:p.Ile714=
ENST00000356316.7:c.423C>A	ENSP00000348667.4:p.Ile141=
ENST00000357568.7:c.2400C>A	ENSP00000350181.3:p.Ile800=
ENST00000397163.7:c.2418C>A	ENSP00000380349.3:p.Ile806=
ENST00000397200.8:c.882C>A	ENSP00000380384.4:p.Ile294=
ENST00000397204.8:c.423C>A	ENSP00000380387.4:p.Ile141=
ENST00000466222.6:n.1341C>A
ENST00000561817.5:c.423C>A	ENSP00000456575.1:p.Ile141=
ENST00000564503.5:c.461C>A
ENST00000565274.5:c.596C>A	ENSP00000457759.1:n.596C>A
ENST00000567817.5:c.234C>A	ENSP00000456514.1:p.Ile78=
ENST00000568153.1:c.155C>A
ENST00000569136.5:c.423C>A	ENSP00000455254.1:p.Ile141=
ENST00000569827.5:c.750C>A	ENSP00000454379.1:p.Ile250=
NM_000070.2:c.2418C>A	NP_000061.1:p.Ile806=
NM_024344.1:c.2400C>A	NP_077320.1:p.Ile800=
NM_173087.1:c.2142C>A	NP_775110.1:p.Ile714=
NM_173088.1:c.882C>A	NP_775111.1:p.Ile294=
NM_173089.1:c.423C>A	NP_775112.1:p.Ile141=
NM_173090.1:c.423C>A	NP_775113.1:p.Ile141=
NM_000070.3:c.2418C>A MANE Select	NP_000061.1:p.Ile806=
NM_024344.2:c.2400C>A	NP_077320.1:p.Ile800=
NM_173087.2:c.2142C>A	NP_775110.1:p.Ile714=
NM_173088.2:c.882C>A	NP_775111.1:p.Ile294=
NM_173089.2:c.423C>A	NP_775112.1:p.Ile141=
NM_173090.2:c.423C>A	NP_775113.1:p.Ile141=