Canonical Allele Identifier: CA10646935

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 315897
• ClinVar RCV Id: RCV000276252 ; RCV000368483
• dbSNP Id: rs867628179
• gnomAD v4: 15-42409968-C-T
• MyVariant Identifiers: chr15:g.42702166C>T (hg19) ; chr15:g.42409968C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42409968C>T , CM000677.2:g.42409968C>T	GRCh38
NC_000015.9:g.42702166C>T , CM000677.1:g.42702166C>T	GRCh37
NC_000015.8:g.40489458C>T	NCBI36
NG_008660.1:g.66866C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.93C>T	ENSP00000336840.4:p.Ser31=
ENST00000349748.8:c.1812C>T	ENSP00000183936.4:p.Ser604=
ENST00000357568.8:c.2070C>T	ENSP00000350181.3:p.Ser690=
ENST00000397163.8:c.2088C>T MANE Select	ENSP00000380349.3:p.Ser696=
ENST00000397204.9:c.93C>T	ENSP00000380387.4:p.Ser31=
ENST00000466222.7:n.353C>T
ENST00000466369.5:n.2579C>T
ENST00000495723.1:n.2959C>T
ENST00000549793.5:n.2301C>T
ENST00000562199.2:c.96C>T	ENSP00000501034.1:p.Ser32=
ENST00000569136.6:c.93C>T	ENSP00000455254.1:p.Ser31=
ENST00000638141.2:n.1827C>T
ENST00000673646.1:c.652C>T	ENSP00000501007.1:n.652C>T
ENST00000673687.1:n.165C>T
ENST00000673692.1:c.93C>T	ENSP00000501138.1:p.Ser31=
ENST00000673705.1:c.483C>T	ENSP00000501021.1:n.483C>T
ENST00000673743.1:c.-10C>T	ENSP00000500989.1:n.-10C>T
ENST00000673750.1:c.93C>T	ENSP00000501173.1:p.Ser31=
ENST00000673771.1:c.93C>T	ENSP00000501023.1:p.Ser31=
ENST00000673774.1:n.789C>T
ENST00000673839.1:c.93C>T	ENSP00000501188.1:p.Ser31=
ENST00000673851.1:c.93C>T	ENSP00000501142.1:p.Ser31=
ENST00000673854.1:n.5510C>T
ENST00000673886.1:c.93C>T	ENSP00000501155.1:p.Ser31=
ENST00000673890.1:c.93C>T	ENSP00000501293.1:p.Ser31=
ENST00000673893.1:c.12C>T	ENSP00000500987.1:p.Ser4=
ENST00000673928.1:c.93C>T	ENSP00000501099.1:p.Ser31=
ENST00000673936.1:c.93C>T	ENSP00000501189.1:p.Ser31=
ENST00000673939.1:c.93C>T	ENSP00000501129.1:p.Ser31=
ENST00000673950.1:n.362C>T
ENST00000673978.1:c.231C>T	ENSP00000500976.1:p.Ser77=
ENST00000673987.1:c.93C>T	ENSP00000501231.1:p.Ser31=
ENST00000674011.1:c.93C>T	ENSP00000501171.1:p.Ser31=
ENST00000674018.1:c.93C>T	ENSP00000501271.1:p.Ser31=
ENST00000674027.1:n.148C>T
ENST00000674041.1:c.93C>T	ENSP00000500956.1:p.Ser31=
ENST00000674052.1:c.312C>T	ENSP00000501057.1:p.Ser104=
ENST00000674093.1:c.93C>T	ENSP00000501303.1:p.Ser31=
ENST00000674119.1:c.93C>T	ENSP00000501217.1:p.Ser31=
ENST00000674130.1:n.306C>T
ENST00000674135.1:c.270C>T	ENSP00000501178.1:p.Ser90=
ENST00000674139.1:c.93C>T	ENSP00000501054.1:p.Ser31=
ENST00000674146.1:c.93C>T	ENSP00000501175.1:p.Ser31=
ENST00000674149.1:c.93C>T	ENSP00000501112.1:p.Ser31=
ENST00000318023.11:c.1944C>T	ENSP00000326281.8:p.Ser648=
ENST00000337571.8:c.93C>T	ENSP00000336840.4:p.Ser31=
ENST00000349748.7:c.1812C>T	ENSP00000183936.4:p.Ser604=
ENST00000356316.7:c.93C>T	ENSP00000348667.4:p.Ser31=
ENST00000357568.7:c.2070C>T	ENSP00000350181.3:p.Ser690=
ENST00000397163.7:c.2088C>T	ENSP00000380349.3:p.Ser696=
ENST00000397200.8:c.552C>T	ENSP00000380384.4:p.Ser184=
ENST00000397204.8:c.93C>T	ENSP00000380387.4:p.Ser31=
ENST00000466222.6:n.1011C>T
ENST00000561817.5:c.93C>T	ENSP00000456575.1:p.Ser31=
ENST00000562199.1:n.96C>T
ENST00000564503.5:c.185C>T
ENST00000565274.5:c.300C>T	ENSP00000457759.1:p.Ser100=
ENST00000565559.5:c.270C>T	ENSP00000457878.1:p.Ser90=
ENST00000569136.5:c.93C>T	ENSP00000455254.1:p.Ser31=
ENST00000569827.5:c.420C>T	ENSP00000454379.1:p.Ser140=
NM_000070.2:c.2088C>T	NP_000061.1:p.Ser696=
NM_024344.1:c.2070C>T	NP_077320.1:p.Ser690=
NM_173087.1:c.1812C>T	NP_775110.1:p.Ser604=
NM_173088.1:c.552C>T	NP_775111.1:p.Ser184=
NM_173089.1:c.93C>T	NP_775112.1:p.Ser31=
NM_173090.1:c.93C>T	NP_775113.1:p.Ser31=
NM_000070.3:c.2088C>T MANE Select	NP_000061.1:p.Ser696=
NM_024344.2:c.2070C>T	NP_077320.1:p.Ser690=
NM_173087.2:c.1812C>T	NP_775110.1:p.Ser604=
NM_173088.2:c.552C>T	NP_775111.1:p.Ser184=
NM_173089.2:c.93C>T	NP_775112.1:p.Ser31=
NM_173090.2:c.93C>T	NP_775113.1:p.Ser31=