Canonical Allele Identifier: CA489885166

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1610628
• ClinVar RCV Id: RCV002155519
• dbSNP Id: rs2141203372
• gnomAD v4: 15-42402970-C-T
• MyVariant Identifiers: chr15:g.42695168C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402970C>T , CM000677.2:g.42402970C>T	GRCh38
NC_000015.9:g.42695168C>T , CM000677.1:g.42695168C>T	GRCh37
NC_000015.8:g.40482460C>T	NCBI36
NG_008660.1:g.59868C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1569C>T	ENSP00000183936.4:p.Leu523=
ENST00000357568.8:c.1713C>T	ENSP00000350181.3:p.Leu571=
ENST00000397163.8:c.1713C>T MANE Select	ENSP00000380349.3:p.Leu571=
ENST00000466369.5:n.2222C>T
ENST00000483208.5:n.2602C>T
ENST00000495723.1:n.2602C>T
ENST00000549793.5:n.1944C>T
ENST00000638141.2:n.1584C>T
ENST00000673646.1:c.177C>T	ENSP00000501007.1:p.Leu59=
ENST00000673705.1:c.309+3318C>T	ENSP00000501021.1:n.309+3318C>T
ENST00000673813.1:n.580+55C>T
ENST00000318023.11:c.1569C>T	ENSP00000326281.8:p.Leu523=
ENST00000349748.7:c.1569C>T	ENSP00000183936.4:p.Leu523=
ENST00000357568.7:c.1713C>T	ENSP00000350181.3:p.Leu571=
ENST00000397163.7:c.1713C>T	ENSP00000380349.3:p.Leu571=
ENST00000397200.8:c.177C>T	ENSP00000380384.4:p.Leu59=
ENST00000567071.5:c.172C>T
ENST00000569827.5:c.177C>T	ENSP00000454379.1:p.Leu59=
NM_000070.2:c.1713C>T	NP_000061.1:p.Leu571=
NM_024344.1:c.1713C>T	NP_077320.1:p.Leu571=
NM_173087.1:c.1569C>T	NP_775110.1:p.Leu523=
NM_173088.1:c.177C>T	NP_775111.1:p.Leu59=
NM_000070.3:c.1713C>T MANE Select	NP_000061.1:p.Leu571=
NM_024344.2:c.1713C>T	NP_077320.1:p.Leu571=
NM_173087.2:c.1569C>T	NP_775110.1:p.Leu523=
NM_173088.2:c.177C>T	NP_775111.1:p.Leu59=