Canonical Allele Identifier: CA391998728

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42390097G>T , CM000677.2:g.42390097G>T	GRCh38
NC_000015.9:g.42682295G>T , CM000677.1:g.42682295G>T	GRCh37
NC_000015.8:g.40469587G>T	NCBI36
NG_008660.1:g.46995G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000070.3:c.945+1G>T MANE Select	NP_000061.1:n.945+1G>T
ENST00000397163.8:c.945+1G>T MANE Select	ENSP00000380349.3:n.945+1G>T
NM_000070.2:c.945+1G>T	NP_000061.1:n.945+1G>T
NM_024344.1:c.945+1G>T	NP_077320.1:n.945+1G>T
NM_024344.2:c.945+1G>T	NP_077320.1:n.945+1G>T
NM_173087.1:c.801+1001G>T	NP_775110.1:n.801+1001G>T
NM_173087.2:c.801+1001G>T	NP_775110.1:n.801+1001G>T
ENST00000318023.11:c.801+1001G>T	ENSP00000326281.8:n.801+1001G>T
ENST00000349748.7:c.801+1001G>T	ENSP00000183936.4:n.801+1001G>T
ENST00000349748.8:c.801+1001G>T	ENSP00000183936.4:n.801+1001G>T
ENST00000357568.7:c.945+1G>T	ENSP00000350181.3:n.945+1G>T
ENST00000357568.8:c.945+1G>T	ENSP00000350181.3:n.945+1G>T
ENST00000397163.7:c.945+1G>T	ENSP00000380349.3:n.945+1G>T
ENST00000466369.5:n.1454+1G>T
ENST00000483208.5:n.1176+1G>T
ENST00000495723.1:n.1176+1G>T
ENST00000549793.5:n.1176+1G>T
ENST00000638141.2:n.816+1001G>T
ENST00000673705.1:c.70+5545G>T	ENSP00000501021.1:n.70+5545G>T