Canonical Allele Identifier: CA7511090

Gene: CAPN3

Linked Data

• dbSNP Id: rs761430243
• ExAC: 15:42681134 G / T
• gnomAD v2: 15-42681134-G-T
• gnomAD v4: 15-42388936-G-T
• MyVariant Identifiers: chr15:g.42681134G>T (hg19) ; chr15:g.42388936G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42388936G>T , CM000677.2:g.42388936G>T	GRCh38
NC_000015.9:g.42681134G>T , CM000677.1:g.42681134G>T	GRCh37
NC_000015.8:g.40468426G>T	NCBI36
NG_008660.1:g.45834G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.641G>T	ENSP00000183936.4:p.Gly214Val
ENST00000357568.8:c.641G>T	ENSP00000350181.3:p.Gly214Val
ENST00000397163.8:c.641G>T MANE Select	ENSP00000380349.3:p.Gly214Val
ENST00000466369.5:n.1150G>T
ENST00000483208.5:n.872G>T
ENST00000495723.1:n.872G>T
ENST00000549793.5:n.872G>T
ENST00000638141.2:n.656G>T
ENST00000673705.1:c.70+4384G>T	ENSP00000501021.1:n.70+4384G>T
ENST00000318023.11:c.641G>T	ENSP00000326281.8:p.Gly214Val
ENST00000349748.7:c.641G>T	ENSP00000183936.4:p.Gly214Val
ENST00000357568.7:c.641G>T	ENSP00000350181.3:p.Gly214Val
ENST00000397163.7:c.641G>T	ENSP00000380349.3:p.Gly214Val
NM_000070.2:c.641G>T	NP_000061.1:p.Gly214Val
NM_024344.1:c.641G>T	NP_077320.1:p.Gly214Val
NM_173087.1:c.641G>T	NP_775110.1:p.Gly214Val
NM_000070.3:c.641G>T MANE Select	NP_000061.1:p.Gly214Val
NM_024344.2:c.641G>T	NP_077320.1:p.Gly214Val
NM_173087.2:c.641G>T	NP_775110.1:p.Gly214Val