Canonical Allele Identifier: CA391999991

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1497207
• ClinVar RCV Id: RCV001992272
• dbSNP Id: rs1555422133
• gnomAD v4: 15-42401799-G-A
• MyVariant Identifiers: chr15:g.42693997G>A (hg19) ; chr15:g.42401799G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401799G>A , CM000677.2:g.42401799G>A	GRCh38
NC_000015.9:g.42693997G>A , CM000677.1:g.42693997G>A	GRCh37
NC_000015.8:g.40481289G>A	NCBI36
NG_008660.1:g.58697G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1369G>A	ENSP00000183936.4:p.Ala457Thr
ENST00000357568.8:c.1513G>A	ENSP00000350181.3:p.Ala505Thr
ENST00000397163.8:c.1513G>A MANE Select	ENSP00000380349.3:p.Ala505Thr
ENST00000466369.5:n.2022G>A
ENST00000483208.5:n.1744G>A
ENST00000495723.1:n.1744G>A
ENST00000549793.5:n.1744G>A
ENST00000638141.2:n.1384G>A
ENST00000673705.1:c.309+2147G>A	ENSP00000501021.1:n.309+2147G>A
ENST00000318023.11:c.1369G>A	ENSP00000326281.8:p.Ala457Thr
ENST00000349748.7:c.1369G>A	ENSP00000183936.4:p.Ala457Thr
ENST00000357568.7:c.1513G>A	ENSP00000350181.3:p.Ala505Thr
ENST00000397163.7:c.1513G>A	ENSP00000380349.3:p.Ala505Thr
NM_000070.2:c.1513G>A	NP_000061.1:p.Ala505Thr
NM_024344.1:c.1513G>A	NP_077320.1:p.Ala505Thr
NM_173087.1:c.1369G>A	NP_775110.1:p.Ala457Thr
NM_000070.3:c.1513G>A MANE Select	NP_000061.1:p.Ala505Thr
NM_024344.2:c.1513G>A	NP_077320.1:p.Ala505Thr
NM_173087.2:c.1369G>A	NP_775110.1:p.Ala457Thr