Canonical Allele Identifier: CA7511214

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42392699T>G , CM000677.2:g.42392699T>G	GRCh38
NC_000015.9:g.42684897T>G , CM000677.1:g.42684897T>G	GRCh37
NC_000015.8:g.40472189T>G	NCBI36
NG_008660.1:g.49597T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000070.3:c.1006T>G MANE Select	NP_000061.1:p.Tyr336Asp
ENST00000397163.8:c.1006T>G MANE Select	ENSP00000380349.3:p.Tyr336Asp
NM_000070.2:c.1006T>G	NP_000061.1:p.Tyr336Asp
NM_024344.1:c.1006T>G	NP_077320.1:p.Tyr336Asp
NM_024344.2:c.1006T>G	NP_077320.1:p.Tyr336Asp
NM_173087.1:c.862T>G	NP_775110.1:p.Tyr288Asp
NM_173087.2:c.862T>G	NP_775110.1:p.Tyr288Asp
ENST00000318023.11:c.862T>G	ENSP00000326281.8:p.Tyr288Asp
ENST00000349748.7:c.862T>G	ENSP00000183936.4:p.Tyr288Asp
ENST00000349748.8:c.862T>G	ENSP00000183936.4:p.Tyr288Asp
ENST00000357568.7:c.1006T>G	ENSP00000350181.3:p.Tyr336Asp
ENST00000357568.8:c.1006T>G	ENSP00000350181.3:p.Tyr336Asp
ENST00000397163.7:c.1006T>G	ENSP00000380349.3:p.Tyr336Asp
ENST00000466369.5:n.1515T>G
ENST00000483208.5:n.1237T>G
ENST00000495723.1:n.1237T>G
ENST00000549793.5:n.1237T>G
ENST00000638141.2:n.877T>G
ENST00000673705.1:c.71-4101T>G	ENSP00000501021.1:n.71-4101T>G