Canonical Allele Identifier: CA391998142

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 595915
• ClinVar RCV Id: RCV000731598 ; RCV001855660
• dbSNP Id: rs1566975567
• MyVariant Identifiers: chr15:g.42681173C>T (hg19) ; chr15:g.42388975C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42388975C>T , CM000677.2:g.42388975C>T	GRCh38
NC_000015.9:g.42681173C>T , CM000677.1:g.42681173C>T	GRCh37
NC_000015.8:g.40468465C>T	NCBI36
NG_008660.1:g.45873C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.680C>T	ENSP00000183936.4:p.Ala227Val
ENST00000357568.8:c.680C>T	ENSP00000350181.3:p.Ala227Val
ENST00000397163.8:c.680C>T MANE Select	ENSP00000380349.3:p.Ala227Val
ENST00000466369.5:n.1189C>T
ENST00000483208.5:n.911C>T
ENST00000495723.1:n.911C>T
ENST00000549793.5:n.911C>T
ENST00000638141.2:n.695C>T
ENST00000673705.1:c.70+4423C>T	ENSP00000501021.1:n.70+4423C>T
ENST00000318023.11:c.680C>T	ENSP00000326281.8:p.Ala227Val
ENST00000349748.7:c.680C>T	ENSP00000183936.4:p.Ala227Val
ENST00000357568.7:c.680C>T	ENSP00000350181.3:p.Ala227Val
ENST00000397163.7:c.680C>T	ENSP00000380349.3:p.Ala227Val
NM_000070.2:c.680C>T	NP_000061.1:p.Ala227Val
NM_024344.1:c.680C>T	NP_077320.1:p.Ala227Val
NM_173087.1:c.680C>T	NP_775110.1:p.Ala227Val
NM_000070.3:c.680C>T MANE Select	NP_000061.1:p.Ala227Val
NM_024344.2:c.680C>T	NP_077320.1:p.Ala227Val
NM_173087.2:c.680C>T	NP_775110.1:p.Ala227Val