Canonical Allele Identifier: CA489881061

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1617136
• ClinVar RCV Id: RCV002076382
• dbSNP Id: rs1462291517
• gnomAD v2: 15-42693987-C-T
• gnomAD v3: 15-42401789-C-T
• gnomAD v4: 15-42401789-C-T
• MyVariant Identifiers: chr15:g.42693987C>T (hg19) ; chr15:g.42401789C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401789C>T , CM000677.2:g.42401789C>T	GRCh38
NC_000015.9:g.42693987C>T , CM000677.1:g.42693987C>T	GRCh37
NC_000015.8:g.40481279C>T	NCBI36
NG_008660.1:g.58687C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1359C>T	ENSP00000183936.4:p.Thr453=
ENST00000357568.8:c.1503C>T	ENSP00000350181.3:p.Thr501=
ENST00000397163.8:c.1503C>T MANE Select	ENSP00000380349.3:p.Thr501=
ENST00000466369.5:n.2012C>T
ENST00000483208.5:n.1734C>T
ENST00000495723.1:n.1734C>T
ENST00000549793.5:n.1734C>T
ENST00000638141.2:n.1374C>T
ENST00000673705.1:c.309+2137C>T	ENSP00000501021.1:n.309+2137C>T
ENST00000318023.11:c.1359C>T	ENSP00000326281.8:p.Thr453=
ENST00000349748.7:c.1359C>T	ENSP00000183936.4:p.Thr453=
ENST00000357568.7:c.1503C>T	ENSP00000350181.3:p.Thr501=
ENST00000397163.7:c.1503C>T	ENSP00000380349.3:p.Thr501=
NM_000070.2:c.1503C>T	NP_000061.1:p.Thr501=
NM_024344.1:c.1503C>T	NP_077320.1:p.Thr501=
NM_173087.1:c.1359C>T	NP_775110.1:p.Thr453=
NM_000070.3:c.1503C>T MANE Select	NP_000061.1:p.Thr501=
NM_024344.2:c.1503C>T	NP_077320.1:p.Thr501=
NM_173087.2:c.1359C>T	NP_775110.1:p.Thr453=