Canonical Allele Identifier: CA392002216

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42411001G>A , CM000677.2:g.42411001G>A	GRCh38
NC_000015.9:g.42703199G>A , CM000677.1:g.42703199G>A	GRCh37
NC_000015.8:g.40490491G>A	NCBI36
NG_008660.1:g.67899G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000070.3:c.2380+1G>A MANE Select	NP_000061.1:n.2380+1G>A
ENST00000397163.8:c.2380+1G>A MANE Select	ENSP00000380349.3:n.2380+1G>A
NM_000070.2:c.2380+1G>A	NP_000061.1:n.2380+1G>A
NM_024344.1:c.2362+1G>A	NP_077320.1:n.2362+1G>A
NM_024344.2:c.2362+1G>A	NP_077320.1:n.2362+1G>A
NM_173087.1:c.2104+1G>A	NP_775110.1:n.2104+1G>A
NM_173087.2:c.2104+1G>A	NP_775110.1:n.2104+1G>A
NM_173088.1:c.844+1G>A	NP_775111.1:n.844+1G>A
NM_173088.2:c.844+1G>A	NP_775111.1:n.844+1G>A
NM_173089.1:c.385+1G>A	NP_775112.1:n.385+1G>A
NM_173089.2:c.385+1G>A	NP_775112.1:n.385+1G>A
NM_173090.1:c.385+1G>A	NP_775113.1:n.385+1G>A
NM_173090.2:c.385+1G>A	NP_775113.1:n.385+1G>A
ENST00000318023.11:c.2236+1G>A	ENSP00000326281.8:n.2236+1G>A
ENST00000337571.8:c.385+1G>A	ENSP00000336840.4:n.385+1G>A
ENST00000337571.9:c.385+1G>A	ENSP00000336840.4:n.385+1G>A
ENST00000349748.7:c.2104+1G>A	ENSP00000183936.4:n.2104+1G>A
ENST00000349748.8:c.2104+1G>A	ENSP00000183936.4:n.2104+1G>A
ENST00000356316.7:c.385+1G>A	ENSP00000348667.4:n.385+1G>A
ENST00000357568.7:c.2362+1G>A	ENSP00000350181.3:n.2362+1G>A
ENST00000357568.8:c.2362+1G>A	ENSP00000350181.3:n.2362+1G>A
ENST00000397163.7:c.2380+1G>A	ENSP00000380349.3:n.2380+1G>A
ENST00000397200.8:c.844+1G>A	ENSP00000380384.4:n.844+1G>A
ENST00000397204.8:c.385+1G>A	ENSP00000380387.4:n.385+1G>A
ENST00000397204.9:c.385+1G>A	ENSP00000380387.4:n.385+1G>A
ENST00000466222.6:n.1303+1G>A
ENST00000466222.7:n.751+75G>A
ENST00000466369.5:n.2871+1G>A
ENST00000495723.1:n.3251+1G>A
ENST00000549793.5:n.2593+1G>A
ENST00000561817.5:c.385+1G>A	ENSP00000456575.1:n.385+1G>A
ENST00000562199.1:n.385G>A
ENST00000562199.2:c.384+1G>A	ENSP00000501034.1:n.384+1G>A
ENST00000564503.5:c.423+1G>A
ENST00000565274.5:c.558+1G>A	ENSP00000457759.1:n.558+1G>A
ENST00000567817.5:c.196+1G>A	ENSP00000456514.1:n.196+1G>A
ENST00000567817.6:c.169+1G>A	ENSP00000456514.2:n.169+1G>A
ENST00000568153.1:c.117+1G>A
ENST00000568153.2:c.246+1G>A
ENST00000569136.5:c.385+1G>A	ENSP00000455254.1:n.385+1G>A
ENST00000569136.6:c.385+1G>A	ENSP00000455254.1:n.385+1G>A
ENST00000569827.5:c.712+1G>A	ENSP00000454379.1:n.712+1G>A
ENST00000638141.2:n.2119+1G>A
ENST00000673646.1:c.944+1G>A	ENSP00000501007.1:n.944+1G>A
ENST00000673684.1:n.362+1G>A
ENST00000673692.1:c.385+1G>A	ENSP00000501138.1:n.385+1G>A
ENST00000673705.1:c.924G>A	ENSP00000501021.1:n.924G>A
ENST00000673743.1:c.283+1G>A	ENSP00000500989.1:n.283+1G>A
ENST00000673750.1:c.385+1G>A	ENSP00000501173.1:n.385+1G>A
ENST00000673771.1:c.385+1G>A	ENSP00000501023.1:n.385+1G>A
ENST00000673774.1:n.1513+1G>A
ENST00000673839.1:c.385+1G>A	ENSP00000501188.1:n.385+1G>A
ENST00000673851.1:c.385+1G>A	ENSP00000501142.1:n.385+1G>A
ENST00000673854.1:n.5802+1G>A
ENST00000673886.1:c.385+1G>A	ENSP00000501155.1:n.385+1G>A
ENST00000673890.1:c.385+1G>A	ENSP00000501293.1:n.385+1G>A
ENST00000673928.1:c.385+1G>A	ENSP00000501099.1:n.385+1G>A
ENST00000673936.1:c.385+1G>A	ENSP00000501189.1:n.385+1G>A
ENST00000673939.1:c.*100+75G>A	ENSP00000501129.1:n.*100+75G>A
ENST00000673950.1:n.654+1G>A
ENST00000673978.1:c.523+1G>A	ENSP00000500976.1:n.523+1G>A
ENST00000673987.1:c.*100+75G>A	ENSP00000501231.1:n.*100+75G>A
ENST00000674011.1:c.*174+1G>A	ENSP00000501171.1:n.*174+1G>A
ENST00000674018.1:c.385+1G>A	ENSP00000501271.1:n.385+1G>A
ENST00000674027.1:n.531+1G>A
ENST00000674041.1:c.385+1G>A	ENSP00000500956.1:n.385+1G>A
ENST00000674052.1:c.604+1G>A	ENSP00000501057.1:n.604+1G>A
ENST00000674093.1:c.385+1G>A	ENSP00000501303.1:n.385+1G>A
ENST00000674119.1:c.385+1G>A	ENSP00000501217.1:n.385+1G>A
ENST00000674135.1:c.562+1G>A	ENSP00000501178.1:n.562+1G>A
ENST00000674139.1:c.385+1G>A	ENSP00000501054.1:n.385+1G>A
ENST00000674146.1:c.385+1G>A	ENSP00000501175.1:n.385+1G>A
ENST00000674149.1:c.385+1G>A	ENSP00000501112.1:n.385+1G>A