Canonical Allele Identifier: CA392000183

Gene: CAPN3

Linked Data

• gnomAD v4: 15-42402843-C-T
• MyVariant Identifiers: chr15:g.42695041C>T (hg19) ; chr15:g.42402843C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402843C>T , CM000677.2:g.42402843C>T	GRCh38
NC_000015.9:g.42695041C>T , CM000677.1:g.42695041C>T	GRCh37
NC_000015.8:g.40482333C>T	NCBI36
NG_008660.1:g.59741C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1442C>T	ENSP00000183936.4:p.Ala481Val
ENST00000357568.8:c.1586C>T	ENSP00000350181.3:p.Ala529Val
ENST00000397163.8:c.1586C>T MANE Select	ENSP00000380349.3:p.Ala529Val
ENST00000466369.5:n.2095C>T
ENST00000483208.5:n.2475C>T
ENST00000495723.1:n.2475C>T
ENST00000549793.5:n.1817C>T
ENST00000638141.2:n.1457C>T
ENST00000673646.1:c.50C>T	ENSP00000501007.1:p.Ala17Val
ENST00000673705.1:c.309+3191C>T	ENSP00000501021.1:n.309+3191C>T
ENST00000673813.1:n.508C>T
ENST00000318023.11:c.1442C>T	ENSP00000326281.8:p.Ala481Val
ENST00000349748.7:c.1442C>T	ENSP00000183936.4:p.Ala481Val
ENST00000357568.7:c.1586C>T	ENSP00000350181.3:p.Ala529Val
ENST00000397163.7:c.1586C>T	ENSP00000380349.3:p.Ala529Val
ENST00000397200.8:c.50C>T	ENSP00000380384.4:p.Ala17Val
ENST00000567071.5:c.45C>T
ENST00000569827.5:c.50C>T	ENSP00000454379.1:p.Ala17Val
NM_000070.2:c.1586C>T	NP_000061.1:p.Ala529Val
NM_024344.1:c.1586C>T	NP_077320.1:p.Ala529Val
NM_173087.1:c.1442C>T	NP_775110.1:p.Ala481Val
NM_173088.1:c.50C>T	NP_775111.1:p.Ala17Val
NM_000070.3:c.1586C>T MANE Select	NP_000061.1:p.Ala529Val
NM_024344.2:c.1586C>T	NP_077320.1:p.Ala529Val
NM_173087.2:c.1442C>T	NP_775110.1:p.Ala481Val
NM_173088.2:c.50C>T	NP_775111.1:p.Ala17Val