Canonical Allele Identifier: CA392001560

Gene: CAPN3

Linked Data

• MyVariant Identifiers: chr15:g.42702179A>C (hg19) ; chr15:g.42409981A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42409981A>C , CM000677.2:g.42409981A>C	GRCh38
NC_000015.9:g.42702179A>C , CM000677.1:g.42702179A>C	GRCh37
NC_000015.8:g.40489471A>C	NCBI36
NG_008660.1:g.66879A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.106A>C	ENSP00000336840.4:p.Ile36Leu
ENST00000349748.8:c.1825A>C	ENSP00000183936.4:p.Ile609Leu
ENST00000357568.8:c.2083A>C	ENSP00000350181.3:p.Ile695Leu
ENST00000397163.8:c.2101A>C MANE Select	ENSP00000380349.3:p.Ile701Leu
ENST00000397204.9:c.106A>C	ENSP00000380387.4:p.Ile36Leu
ENST00000466222.7:n.366A>C
ENST00000466369.5:n.2592A>C
ENST00000495723.1:n.2972A>C
ENST00000549793.5:n.2314A>C
ENST00000562199.2:c.109A>C	ENSP00000501034.1:p.Ile37Leu
ENST00000569136.6:c.106A>C	ENSP00000455254.1:p.Ile36Leu
ENST00000638141.2:n.1840A>C
ENST00000673646.1:c.665A>C	ENSP00000501007.1:n.665A>C
ENST00000673687.1:n.178A>C
ENST00000673692.1:c.106A>C	ENSP00000501138.1:p.Ile36Leu
ENST00000673705.1:c.496A>C	ENSP00000501021.1:n.496A>C
ENST00000673743.1:c.4A>C	ENSP00000500989.1:p.Ile2Leu
ENST00000673750.1:c.106A>C	ENSP00000501173.1:p.Ile36Leu
ENST00000673771.1:c.106A>C	ENSP00000501023.1:p.Ile36Leu
ENST00000673774.1:n.802A>C
ENST00000673839.1:c.106A>C	ENSP00000501188.1:p.Ile36Leu
ENST00000673851.1:c.106A>C	ENSP00000501142.1:p.Ile36Leu
ENST00000673854.1:n.5523A>C
ENST00000673886.1:c.106A>C	ENSP00000501155.1:p.Ile36Leu
ENST00000673890.1:c.106A>C	ENSP00000501293.1:p.Ile36Leu
ENST00000673893.1:c.25A>C	ENSP00000500987.1:p.Ile9Leu
ENST00000673928.1:c.106A>C	ENSP00000501099.1:p.Ile36Leu
ENST00000673936.1:c.106A>C	ENSP00000501189.1:p.Ile36Leu
ENST00000673939.1:c.106A>C	ENSP00000501129.1:p.Ile36Leu
ENST00000673950.1:n.375A>C
ENST00000673978.1:c.244A>C	ENSP00000500976.1:p.Ile82Leu
ENST00000673987.1:c.106A>C	ENSP00000501231.1:p.Ile36Leu
ENST00000674011.1:c.106A>C	ENSP00000501171.1:p.Ile36Leu
ENST00000674018.1:c.106A>C	ENSP00000501271.1:p.Ile36Leu
ENST00000674027.1:n.161A>C
ENST00000674041.1:c.106A>C	ENSP00000500956.1:p.Ile36Leu
ENST00000674052.1:c.325A>C	ENSP00000501057.1:p.Ile109Leu
ENST00000674093.1:c.106A>C	ENSP00000501303.1:p.Ile36Leu
ENST00000674119.1:c.106A>C	ENSP00000501217.1:p.Ile36Leu
ENST00000674130.1:n.319A>C
ENST00000674135.1:c.283A>C	ENSP00000501178.1:p.Ile95Leu
ENST00000674139.1:c.106A>C	ENSP00000501054.1:p.Ile36Leu
ENST00000674146.1:c.106A>C	ENSP00000501175.1:p.Ile36Leu
ENST00000674149.1:c.106A>C	ENSP00000501112.1:p.Ile36Leu
ENST00000318023.11:c.1957A>C	ENSP00000326281.8:p.Ile653Leu
ENST00000337571.8:c.106A>C	ENSP00000336840.4:p.Ile36Leu
ENST00000349748.7:c.1825A>C	ENSP00000183936.4:p.Ile609Leu
ENST00000356316.7:c.106A>C	ENSP00000348667.4:p.Ile36Leu
ENST00000357568.7:c.2083A>C	ENSP00000350181.3:p.Ile695Leu
ENST00000397163.7:c.2101A>C	ENSP00000380349.3:p.Ile701Leu
ENST00000397200.8:c.565A>C	ENSP00000380384.4:p.Ile189Leu
ENST00000397204.8:c.106A>C	ENSP00000380387.4:p.Ile36Leu
ENST00000466222.6:n.1024A>C
ENST00000561817.5:c.106A>C	ENSP00000456575.1:p.Ile36Leu
ENST00000562199.1:n.109A>C
ENST00000564503.5:c.198A>C
ENST00000565274.5:c.313A>C	ENSP00000457759.1:p.Ile105Leu
ENST00000565559.5:c.283A>C	ENSP00000457878.1:p.Ile95Leu
ENST00000569136.5:c.106A>C	ENSP00000455254.1:p.Ile36Leu
ENST00000569827.5:c.433A>C	ENSP00000454379.1:p.Ile145Leu
NM_000070.2:c.2101A>C	NP_000061.1:p.Ile701Leu
NM_024344.1:c.2083A>C	NP_077320.1:p.Ile695Leu
NM_173087.1:c.1825A>C	NP_775110.1:p.Ile609Leu
NM_173088.1:c.565A>C	NP_775111.1:p.Ile189Leu
NM_173089.1:c.106A>C	NP_775112.1:p.Ile36Leu
NM_173090.1:c.106A>C	NP_775113.1:p.Ile36Leu
NM_000070.3:c.2101A>C MANE Select	NP_000061.1:p.Ile701Leu
NM_024344.2:c.2083A>C	NP_077320.1:p.Ile695Leu
NM_173087.2:c.1825A>C	NP_775110.1:p.Ile609Leu
NM_173088.2:c.565A>C	NP_775111.1:p.Ile189Leu
NM_173089.2:c.106A>C	NP_775112.1:p.Ile36Leu
NM_173090.2:c.106A>C	NP_775113.1:p.Ile36Leu