Canonical Allele Identifier: CA10605041

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 285218
• ClinVar RCV Id: RCV000260610
• dbSNP Id: rs886043047
• MyVariant Identifiers: chr15:g.42681256G>A (hg19) ; chr15:g.42389058G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389058G>A , CM000677.2:g.42389058G>A	GRCh38
NC_000015.9:g.42681256G>A , CM000677.1:g.42681256G>A	GRCh37
NC_000015.8:g.40468548G>A	NCBI36
NG_008660.1:g.45956G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.763G>A	ENSP00000183936.4:p.Ala255Thr
ENST00000357568.8:c.763G>A	ENSP00000350181.3:p.Ala255Thr
ENST00000397163.8:c.763G>A MANE Select	ENSP00000380349.3:p.Ala255Thr
ENST00000466369.5:n.1272G>A
ENST00000483208.5:n.994G>A
ENST00000495723.1:n.994G>A
ENST00000549793.5:n.994G>A
ENST00000638141.2:n.778G>A
ENST00000673705.1:c.70+4506G>A	ENSP00000501021.1:n.70+4506G>A
ENST00000318023.11:c.763G>A	ENSP00000326281.8:p.Ala255Thr
ENST00000349748.7:c.763G>A	ENSP00000183936.4:p.Ala255Thr
ENST00000357568.7:c.763G>A	ENSP00000350181.3:p.Ala255Thr
ENST00000397163.7:c.763G>A	ENSP00000380349.3:p.Ala255Thr
NM_000070.2:c.763G>A	NP_000061.1:p.Ala255Thr
NM_024344.1:c.763G>A	NP_077320.1:p.Ala255Thr
NM_173087.1:c.763G>A	NP_775110.1:p.Ala255Thr
NM_000070.3:c.763G>A MANE Select	NP_000061.1:p.Ala255Thr
NM_024344.2:c.763G>A	NP_077320.1:p.Ala255Thr
NM_173087.2:c.763G>A	NP_775110.1:p.Ala255Thr