Canonical Allele Identifier: CA7511458

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 553020
• ClinVar RCV Id: RCV000668383 ; RCV001584540 ; RCV001814213 ; RCV003459596
• dbSNP Id: rs767739787
• ExAC: 15:42695112 G / A
• gnomAD v2: 15-42695112-G-A
• gnomAD v4: 15-42402914-G-A
• MyVariant Identifiers: chr15:g.42695112G>A (hg19) ; chr15:g.42402914G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402914G>A , CM000677.2:g.42402914G>A	GRCh38
NC_000015.9:g.42695112G>A , CM000677.1:g.42695112G>A	GRCh37
NC_000015.8:g.40482404G>A	NCBI36
NG_008660.1:g.59812G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1513G>A	ENSP00000183936.4:p.Glu505Lys
ENST00000357568.8:c.1657G>A	ENSP00000350181.3:p.Glu553Lys
ENST00000397163.8:c.1657G>A MANE Select	ENSP00000380349.3:p.Glu553Lys
ENST00000466369.5:n.2166G>A
ENST00000483208.5:n.2546G>A
ENST00000495723.1:n.2546G>A
ENST00000549793.5:n.1888G>A
ENST00000638141.2:n.1528G>A
ENST00000673646.1:c.121G>A	ENSP00000501007.1:p.Glu41Lys
ENST00000673705.1:c.309+3262G>A	ENSP00000501021.1:n.309+3262G>A
ENST00000673813.1:n.579G>A
ENST00000318023.11:c.1513G>A	ENSP00000326281.8:p.Glu505Lys
ENST00000349748.7:c.1513G>A	ENSP00000183936.4:p.Glu505Lys
ENST00000357568.7:c.1657G>A	ENSP00000350181.3:p.Glu553Lys
ENST00000397163.7:c.1657G>A	ENSP00000380349.3:p.Glu553Lys
ENST00000397200.8:c.121G>A	ENSP00000380384.4:p.Glu41Lys
ENST00000567071.5:c.116G>A
ENST00000569827.5:c.121G>A	ENSP00000454379.1:p.Glu41Lys
NM_000070.2:c.1657G>A	NP_000061.1:p.Glu553Lys
NM_024344.1:c.1657G>A	NP_077320.1:p.Glu553Lys
NM_173087.1:c.1513G>A	NP_775110.1:p.Glu505Lys
NM_173088.1:c.121G>A	NP_775111.1:p.Glu41Lys
NM_000070.3:c.1657G>A MANE Select	NP_000061.1:p.Glu553Lys
NM_024344.2:c.1657G>A	NP_077320.1:p.Glu553Lys
NM_173087.2:c.1513G>A	NP_775110.1:p.Glu505Lys
NM_173088.2:c.121G>A	NP_775111.1:p.Glu41Lys