Canonical Allele Identifier: CA392002126

Gene: CAPN3

Linked Data

• MyVariant Identifiers: chr15:g.42703160G>C (hg19) ; chr15:g.42410962G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42410962G>C , CM000677.2:g.42410962G>C	GRCh38
NC_000015.9:g.42703160G>C , CM000677.1:g.42703160G>C	GRCh37
NC_000015.8:g.40490452G>C	NCBI36
NG_008660.1:g.67860G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000337571.9:c.347G>C	ENSP00000336840.4:p.Ser116Thr
ENST00000349748.8:c.2066G>C	ENSP00000183936.4:p.Ser689Thr
ENST00000357568.8:c.2324G>C	ENSP00000350181.3:p.Ser775Thr
ENST00000397163.8:c.2342G>C MANE Select	ENSP00000380349.3:p.Ser781Thr
ENST00000397204.9:c.347G>C	ENSP00000380387.4:p.Ser116Thr
ENST00000466222.7:n.751+36G>C
ENST00000466369.5:n.2833G>C
ENST00000495723.1:n.3213G>C
ENST00000549793.5:n.2555G>C
ENST00000562199.2:c.346G>C	ENSP00000501034.1:n.346G>C
ENST00000567817.6:c.131G>C	ENSP00000456514.2:p.Ser44Thr
ENST00000568153.2:c.208G>C
ENST00000569136.6:c.347G>C	ENSP00000455254.1:p.Ser116Thr
ENST00000638141.2:n.2081G>C
ENST00000673646.1:c.906G>C	ENSP00000501007.1:n.906G>C
ENST00000673684.1:n.324G>C
ENST00000673692.1:c.347G>C	ENSP00000501138.1:p.Ser116Thr
ENST00000673705.1:c.885G>C	ENSP00000501021.1:n.885G>C
ENST00000673743.1:c.245G>C	ENSP00000500989.1:p.Ser82Thr
ENST00000673750.1:c.347G>C	ENSP00000501173.1:p.Ser116Thr
ENST00000673771.1:c.347G>C	ENSP00000501023.1:p.Ser116Thr
ENST00000673774.1:n.1475G>C
ENST00000673839.1:c.347G>C	ENSP00000501188.1:p.Ser116Thr
ENST00000673851.1:c.347G>C	ENSP00000501142.1:p.Ser116Thr
ENST00000673854.1:n.5764G>C
ENST00000673886.1:c.347G>C	ENSP00000501155.1:p.Ser116Thr
ENST00000673890.1:c.347G>C	ENSP00000501293.1:p.Ser116Thr
ENST00000673928.1:c.347G>C	ENSP00000501099.1:p.Ser116Thr
ENST00000673936.1:c.347G>C	ENSP00000501189.1:p.Ser116Thr
ENST00000673939.1:c.*100+36G>C	ENSP00000501129.1:n.*100+36G>C
ENST00000673950.1:n.616G>C
ENST00000673978.1:c.485G>C	ENSP00000500976.1:p.Ser162Thr
ENST00000673987.1:c.*100+36G>C	ENSP00000501231.1:n.*100+36G>C
ENST00000674011.1:c.*136G>C	ENSP00000501171.1:n.*136G>C
ENST00000674018.1:c.347G>C	ENSP00000501271.1:p.Ser116Thr
ENST00000674027.1:n.493G>C
ENST00000674041.1:c.347G>C	ENSP00000500956.1:p.Ser116Thr
ENST00000674052.1:c.566G>C	ENSP00000501057.1:p.Ser189Thr
ENST00000674093.1:c.347G>C	ENSP00000501303.1:p.Ser116Thr
ENST00000674119.1:c.347G>C	ENSP00000501217.1:p.Ser116Thr
ENST00000674135.1:c.524G>C	ENSP00000501178.1:p.Ser175Thr
ENST00000674139.1:c.347G>C	ENSP00000501054.1:p.Ser116Thr
ENST00000674146.1:c.347G>C	ENSP00000501175.1:p.Ser116Thr
ENST00000674149.1:c.347G>C	ENSP00000501112.1:p.Ser116Thr
ENST00000318023.11:c.2198G>C	ENSP00000326281.8:p.Ser733Thr
ENST00000337571.8:c.347G>C	ENSP00000336840.4:p.Ser116Thr
ENST00000349748.7:c.2066G>C	ENSP00000183936.4:p.Ser689Thr
ENST00000356316.7:c.347G>C	ENSP00000348667.4:p.Ser116Thr
ENST00000357568.7:c.2324G>C	ENSP00000350181.3:p.Ser775Thr
ENST00000397163.7:c.2342G>C	ENSP00000380349.3:p.Ser781Thr
ENST00000397200.8:c.806G>C	ENSP00000380384.4:p.Ser269Thr
ENST00000397204.8:c.347G>C	ENSP00000380387.4:p.Ser116Thr
ENST00000466222.6:n.1265G>C
ENST00000561817.5:c.347G>C	ENSP00000456575.1:p.Ser116Thr
ENST00000562199.1:n.346G>C
ENST00000564503.5:c.385G>C
ENST00000565274.5:c.520G>C	ENSP00000457759.1:n.520G>C
ENST00000567817.5:c.158G>C	ENSP00000456514.1:p.Ser53Thr
ENST00000568153.1:c.79G>C
ENST00000569136.5:c.347G>C	ENSP00000455254.1:p.Ser116Thr
ENST00000569827.5:c.674G>C	ENSP00000454379.1:p.Ser225Thr
NM_000070.2:c.2342G>C	NP_000061.1:p.Ser781Thr
NM_024344.1:c.2324G>C	NP_077320.1:p.Ser775Thr
NM_173087.1:c.2066G>C	NP_775110.1:p.Ser689Thr
NM_173088.1:c.806G>C	NP_775111.1:p.Ser269Thr
NM_173089.1:c.347G>C	NP_775112.1:p.Ser116Thr
NM_173090.1:c.347G>C	NP_775113.1:p.Ser116Thr
NM_000070.3:c.2342G>C MANE Select	NP_000061.1:p.Ser781Thr
NM_024344.2:c.2324G>C	NP_077320.1:p.Ser775Thr
NM_173087.2:c.2066G>C	NP_775110.1:p.Ser689Thr
NM_173088.2:c.806G>C	NP_775111.1:p.Ser269Thr
NM_173089.2:c.347G>C	NP_775112.1:p.Ser116Thr
NM_173090.2:c.347G>C	NP_775113.1:p.Ser116Thr