Canonical Allele Identifier: CA392001545

Gene: CAPN3

Linked Data

• MyVariant Identifiers: chr15:g.42702173A>G (hg19) ; chr15:g.42409975A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42409975A>G , CM000677.2:g.42409975A>G	GRCh38
NC_000015.9:g.42702173A>G , CM000677.1:g.42702173A>G	GRCh37
NC_000015.8:g.40489465A>G	NCBI36
NG_008660.1:g.66873A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.100A>G	ENSP00000336840.4:p.Ser34Gly
ENST00000349748.8:c.1819A>G	ENSP00000183936.4:p.Ser607Gly
ENST00000357568.8:c.2077A>G	ENSP00000350181.3:p.Ser693Gly
ENST00000397163.8:c.2095A>G MANE Select	ENSP00000380349.3:p.Ser699Gly
ENST00000397204.9:c.100A>G	ENSP00000380387.4:p.Ser34Gly
ENST00000466222.7:n.360A>G
ENST00000466369.5:n.2586A>G
ENST00000495723.1:n.2966A>G
ENST00000549793.5:n.2308A>G
ENST00000562199.2:c.103A>G	ENSP00000501034.1:p.Ser35Gly
ENST00000569136.6:c.100A>G	ENSP00000455254.1:p.Ser34Gly
ENST00000638141.2:n.1834A>G
ENST00000673646.1:c.659A>G	ENSP00000501007.1:n.659A>G
ENST00000673687.1:n.172A>G
ENST00000673692.1:c.100A>G	ENSP00000501138.1:p.Ser34Gly
ENST00000673705.1:c.490A>G	ENSP00000501021.1:n.490A>G
ENST00000673743.1:c.-3A>G	ENSP00000500989.1:n.-3A>G
ENST00000673750.1:c.100A>G	ENSP00000501173.1:p.Ser34Gly
ENST00000673771.1:c.100A>G	ENSP00000501023.1:p.Ser34Gly
ENST00000673774.1:n.796A>G
ENST00000673839.1:c.100A>G	ENSP00000501188.1:p.Ser34Gly
ENST00000673851.1:c.100A>G	ENSP00000501142.1:p.Ser34Gly
ENST00000673854.1:n.5517A>G
ENST00000673886.1:c.100A>G	ENSP00000501155.1:p.Ser34Gly
ENST00000673890.1:c.100A>G	ENSP00000501293.1:p.Ser34Gly
ENST00000673893.1:c.19A>G	ENSP00000500987.1:p.Ser7Gly
ENST00000673928.1:c.100A>G	ENSP00000501099.1:p.Ser34Gly
ENST00000673936.1:c.100A>G	ENSP00000501189.1:p.Ser34Gly
ENST00000673939.1:c.100A>G	ENSP00000501129.1:p.Ser34Gly
ENST00000673950.1:n.369A>G
ENST00000673978.1:c.238A>G	ENSP00000500976.1:p.Ser80Gly
ENST00000673987.1:c.100A>G	ENSP00000501231.1:p.Ser34Gly
ENST00000674011.1:c.100A>G	ENSP00000501171.1:p.Ser34Gly
ENST00000674018.1:c.100A>G	ENSP00000501271.1:p.Ser34Gly
ENST00000674027.1:n.155A>G
ENST00000674041.1:c.100A>G	ENSP00000500956.1:p.Ser34Gly
ENST00000674052.1:c.319A>G	ENSP00000501057.1:p.Ser107Gly
ENST00000674093.1:c.100A>G	ENSP00000501303.1:p.Ser34Gly
ENST00000674119.1:c.100A>G	ENSP00000501217.1:p.Ser34Gly
ENST00000674130.1:n.313A>G
ENST00000674135.1:c.277A>G	ENSP00000501178.1:p.Ser93Gly
ENST00000674139.1:c.100A>G	ENSP00000501054.1:p.Ser34Gly
ENST00000674146.1:c.100A>G	ENSP00000501175.1:p.Ser34Gly
ENST00000674149.1:c.100A>G	ENSP00000501112.1:p.Ser34Gly
ENST00000318023.11:c.1951A>G	ENSP00000326281.8:p.Ser651Gly
ENST00000337571.8:c.100A>G	ENSP00000336840.4:p.Ser34Gly
ENST00000349748.7:c.1819A>G	ENSP00000183936.4:p.Ser607Gly
ENST00000356316.7:c.100A>G	ENSP00000348667.4:p.Ser34Gly
ENST00000357568.7:c.2077A>G	ENSP00000350181.3:p.Ser693Gly
ENST00000397163.7:c.2095A>G	ENSP00000380349.3:p.Ser699Gly
ENST00000397200.8:c.559A>G	ENSP00000380384.4:p.Ser187Gly
ENST00000397204.8:c.100A>G	ENSP00000380387.4:p.Ser34Gly
ENST00000466222.6:n.1018A>G
ENST00000561817.5:c.100A>G	ENSP00000456575.1:p.Ser34Gly
ENST00000562199.1:n.103A>G
ENST00000564503.5:c.192A>G
ENST00000565274.5:c.307A>G	ENSP00000457759.1:p.Ser103Gly
ENST00000565559.5:c.277A>G	ENSP00000457878.1:p.Ser93Gly
ENST00000569136.5:c.100A>G	ENSP00000455254.1:p.Ser34Gly
ENST00000569827.5:c.427A>G	ENSP00000454379.1:p.Ser143Gly
NM_000070.2:c.2095A>G	NP_000061.1:p.Ser699Gly
NM_024344.1:c.2077A>G	NP_077320.1:p.Ser693Gly
NM_173087.1:c.1819A>G	NP_775110.1:p.Ser607Gly
NM_173088.1:c.559A>G	NP_775111.1:p.Ser187Gly
NM_173089.1:c.100A>G	NP_775112.1:p.Ser34Gly
NM_173090.1:c.100A>G	NP_775113.1:p.Ser34Gly
NM_000070.3:c.2095A>G MANE Select	NP_000061.1:p.Ser699Gly
NM_024344.2:c.2077A>G	NP_077320.1:p.Ser693Gly
NM_173087.2:c.1819A>G	NP_775110.1:p.Ser607Gly
NM_173088.2:c.559A>G	NP_775111.1:p.Ser187Gly
NM_173089.2:c.100A>G	NP_775112.1:p.Ser34Gly
NM_173090.2:c.100A>G	NP_775113.1:p.Ser34Gly