Canonical Allele Identifier: CA391999018

Gene: CAPN3

Linked Data

• gnomAD v4: 15-42394306-G-T
• MyVariant Identifiers: chr15:g.42686504G>T (hg19) ; chr15:g.42394306G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42394306G>T , CM000677.2:g.42394306G>T	GRCh38
NC_000015.9:g.42686504G>T , CM000677.1:g.42686504G>T	GRCh37
NC_000015.8:g.40473796G>T	NCBI36
NG_008660.1:g.51204G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.936G>T	ENSP00000183936.4:p.Trp312Cys
ENST00000357568.8:c.1080G>T	ENSP00000350181.3:p.Trp360Cys
ENST00000397163.8:c.1080G>T MANE Select	ENSP00000380349.3:p.Trp360Cys
ENST00000466369.5:n.1589G>T
ENST00000483208.5:n.1311G>T
ENST00000495723.1:n.1311G>T
ENST00000549793.5:n.1311G>T
ENST00000638141.2:n.951G>T
ENST00000673658.1:n.64G>T
ENST00000673705.1:c.71-2494G>T	ENSP00000501021.1:n.71-2494G>T
ENST00000318023.11:c.936G>T	ENSP00000326281.8:p.Trp312Cys
ENST00000349748.7:c.936G>T	ENSP00000183936.4:p.Trp312Cys
ENST00000357568.7:c.1080G>T	ENSP00000350181.3:p.Trp360Cys
ENST00000397163.7:c.1080G>T	ENSP00000380349.3:p.Trp360Cys
NM_000070.2:c.1080G>T	NP_000061.1:p.Trp360Cys
NM_024344.1:c.1080G>T	NP_077320.1:p.Trp360Cys
NM_173087.1:c.936G>T	NP_775110.1:p.Trp312Cys
NM_000070.3:c.1080G>T MANE Select	NP_000061.1:p.Trp360Cys
NM_024344.2:c.1080G>T	NP_077320.1:p.Trp360Cys
NM_173087.2:c.936G>T	NP_775110.1:p.Trp312Cys