Canonical Allele Identifier: CA489878146

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1618688
• ClinVar RCV Id: RCV002094091
• dbSNP Id: rs2141102887
• MyVariant Identifiers: chr15:g.42652285C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42360087C>T , CM000677.2:g.42360087C>T	GRCh38
NC_000015.9:g.42652285C>T , CM000677.1:g.42652285C>T	GRCh37
NC_000015.8:g.40439577C>T	NCBI36
NG_008660.1:g.16985C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.282C>T	ENSP00000183936.4:p.Pro94=
ENST00000357568.8:c.282C>T	ENSP00000350181.3:p.Pro94=
ENST00000397163.8:c.282C>T MANE Select	ENSP00000380349.3:p.Pro94=
ENST00000466369.5:n.540+5634C>T
ENST00000483208.5:n.540+5634C>T
ENST00000495723.1:n.540+5634C>T
ENST00000549793.5:n.540+5634C>T
ENST00000318023.11:c.282C>T	ENSP00000326281.8:p.Pro94=
ENST00000349748.7:c.282C>T	ENSP00000183936.4:p.Pro94=
ENST00000357568.7:c.282C>T	ENSP00000350181.3:p.Pro94=
ENST00000397163.7:c.282C>T	ENSP00000380349.3:p.Pro94=
NM_000070.2:c.282C>T	NP_000061.1:p.Pro94=
NM_024344.1:c.282C>T	NP_077320.1:p.Pro94=
NM_173087.1:c.282C>T	NP_775110.1:p.Pro94=
NM_000070.3:c.282C>T MANE Select	NP_000061.1:p.Pro94=
NM_024344.2:c.282C>T	NP_077320.1:p.Pro94=
NM_173087.2:c.282C>T	NP_775110.1:p.Pro94=