Canonical Allele Identifier: CA391999851

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 499203
• ClinVar RCV Id: RCV000595569 ; RCV001247084
• dbSNP Id: rs1555422111
• MyVariant Identifiers: chr15:g.42693923T>A (hg19) ; chr15:g.42401725T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401725T>A , CM000677.2:g.42401725T>A	GRCh38
NC_000015.9:g.42693923T>A , CM000677.1:g.42693923T>A	GRCh37
NC_000015.8:g.40481215T>A	NCBI36
NG_008660.1:g.58623T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1295T>A	ENSP00000183936.4:p.Phe432Tyr
ENST00000357568.8:c.1439T>A	ENSP00000350181.3:p.Phe480Tyr
ENST00000397163.8:c.1439T>A MANE Select	ENSP00000380349.3:p.Phe480Tyr
ENST00000466369.5:n.1948T>A
ENST00000483208.5:n.1670T>A
ENST00000495723.1:n.1670T>A
ENST00000549793.5:n.1670T>A
ENST00000638141.2:n.1310T>A
ENST00000673705.1:c.309+2073T>A	ENSP00000501021.1:n.309+2073T>A
ENST00000318023.11:c.1295T>A	ENSP00000326281.8:p.Phe432Tyr
ENST00000349748.7:c.1295T>A	ENSP00000183936.4:p.Phe432Tyr
ENST00000357568.7:c.1439T>A	ENSP00000350181.3:p.Phe480Tyr
ENST00000397163.7:c.1439T>A	ENSP00000380349.3:p.Phe480Tyr
NM_000070.2:c.1439T>A	NP_000061.1:p.Phe480Tyr
NM_024344.1:c.1439T>A	NP_077320.1:p.Phe480Tyr
NM_173087.1:c.1295T>A	NP_775110.1:p.Phe432Tyr
NM_000070.3:c.1439T>A MANE Select	NP_000061.1:p.Phe480Tyr
NM_024344.2:c.1439T>A	NP_077320.1:p.Phe480Tyr
NM_173087.2:c.1295T>A	NP_775110.1:p.Phe432Tyr