Canonical Allele Identifier: CA489885191

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 799919
• ClinVar RCV Id: RCV000983541
• dbSNP Id: rs1296069874
• MyVariant Identifiers: chr15:g.42695195C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402997C>G , CM000677.2:g.42402997C>G	GRCh38
NC_000015.9:g.42695195C>G , CM000677.1:g.42695195C>G	GRCh37
NC_000015.8:g.40482487C>G	NCBI36
NG_008660.1:g.59895C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1596C>G	ENSP00000183936.4:p.Leu532=
ENST00000357568.8:c.1740C>G	ENSP00000350181.3:p.Leu580=
ENST00000397163.8:c.1740C>G MANE Select	ENSP00000380349.3:p.Leu580=
ENST00000466369.5:n.2249C>G
ENST00000483208.5:n.2629C>G
ENST00000495723.1:n.2629C>G
ENST00000549793.5:n.1971C>G
ENST00000638141.2:n.1611C>G
ENST00000673646.1:c.204C>G	ENSP00000501007.1:p.Leu68=
ENST00000673705.1:c.309+3345C>G	ENSP00000501021.1:n.309+3345C>G
ENST00000673813.1:n.580+82C>G
ENST00000318023.11:c.1596C>G	ENSP00000326281.8:p.Leu532=
ENST00000349748.7:c.1596C>G	ENSP00000183936.4:p.Leu532=
ENST00000357568.7:c.1740C>G	ENSP00000350181.3:p.Leu580=
ENST00000397163.7:c.1740C>G	ENSP00000380349.3:p.Leu580=
ENST00000397200.8:c.204C>G	ENSP00000380384.4:p.Leu68=
ENST00000567071.5:c.199C>G
ENST00000569827.5:c.204C>G	ENSP00000454379.1:p.Leu68=
NM_000070.2:c.1740C>G	NP_000061.1:p.Leu580=
NM_024344.1:c.1740C>G	NP_077320.1:p.Leu580=
NM_173087.1:c.1596C>G	NP_775110.1:p.Leu532=
NM_173088.1:c.204C>G	NP_775111.1:p.Leu68=
NM_000070.3:c.1740C>G MANE Select	NP_000061.1:p.Leu580=
NM_024344.2:c.1740C>G	NP_077320.1:p.Leu580=
NM_173087.2:c.1596C>G	NP_775110.1:p.Leu532=
NM_173088.2:c.204C>G	NP_775111.1:p.Leu68=