Canonical Allele Identifier: CA391999103

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 536510
• ClinVar RCV Id: RCV000644977
• dbSNP Id: rs1057524468
• MyVariant Identifiers: chr15:g.42686541T>A (hg19) ; chr15:g.42394343T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42394343T>A , CM000677.2:g.42394343T>A	GRCh38
NC_000015.9:g.42686541T>A , CM000677.1:g.42686541T>A	GRCh37
NC_000015.8:g.40473833T>A	NCBI36
NG_008660.1:g.51241T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.971+2T>A	ENSP00000183936.4:n.971+2T>A
ENST00000357568.8:c.1115+2T>A	ENSP00000350181.3:n.1115+2T>A
ENST00000397163.8:c.1115+2T>A MANE Select	ENSP00000380349.3:n.1115+2T>A
ENST00000466369.5:n.1624+2T>A
ENST00000483208.5:n.1346+2T>A
ENST00000495723.1:n.1346+2T>A
ENST00000549793.5:n.1346+2T>A
ENST00000638141.2:n.986+2T>A
ENST00000673658.1:n.99+2T>A
ENST00000673705.1:c.71-2457T>A	ENSP00000501021.1:n.71-2457T>A
ENST00000318023.11:c.971+2T>A	ENSP00000326281.8:n.971+2T>A
ENST00000349748.7:c.971+2T>A	ENSP00000183936.4:n.971+2T>A
ENST00000357568.7:c.1115+2T>A	ENSP00000350181.3:n.1115+2T>A
ENST00000397163.7:c.1115+2T>A	ENSP00000380349.3:n.1115+2T>A
NM_000070.2:c.1115+2T>A	NP_000061.1:n.1115+2T>A
NM_024344.1:c.1115+2T>A	NP_077320.1:n.1115+2T>A
NM_173087.1:c.971+2T>A	NP_775110.1:n.971+2T>A
NM_000070.3:c.1115+2T>A MANE Select	NP_000061.1:n.1115+2T>A
NM_024344.2:c.1115+2T>A	NP_077320.1:n.1115+2T>A
NM_173087.2:c.971+2T>A	NP_775110.1:n.971+2T>A