Canonical Allele Identifier: CA7511455

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402907T>C , CM000677.2:g.42402907T>C	GRCh38
NC_000015.9:g.42695105T>C , CM000677.1:g.42695105T>C	GRCh37
NC_000015.8:g.40482397T>C	NCBI36
NG_008660.1:g.59805T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000070.3:c.1650T>C MANE Select	NP_000061.1:p.Pro550=
ENST00000397163.8:c.1650T>C MANE Select	ENSP00000380349.3:p.Pro550=
NM_000070.2:c.1650T>C	NP_000061.1:p.Pro550=
NM_024344.1:c.1650T>C	NP_077320.1:p.Pro550=
NM_024344.2:c.1650T>C	NP_077320.1:p.Pro550=
NM_173087.1:c.1506T>C	NP_775110.1:p.Pro502=
NM_173087.2:c.1506T>C	NP_775110.1:p.Pro502=
NM_173088.1:c.114T>C	NP_775111.1:p.Pro38=
NM_173088.2:c.114T>C	NP_775111.1:p.Pro38=
ENST00000318023.11:c.1506T>C	ENSP00000326281.8:p.Pro502=
ENST00000349748.7:c.1506T>C	ENSP00000183936.4:p.Pro502=
ENST00000349748.8:c.1506T>C	ENSP00000183936.4:p.Pro502=
ENST00000357568.7:c.1650T>C	ENSP00000350181.3:p.Pro550=
ENST00000357568.8:c.1650T>C	ENSP00000350181.3:p.Pro550=
ENST00000397163.7:c.1650T>C	ENSP00000380349.3:p.Pro550=
ENST00000397200.8:c.114T>C	ENSP00000380384.4:p.Pro38=
ENST00000466369.5:n.2159T>C
ENST00000483208.5:n.2539T>C
ENST00000495723.1:n.2539T>C
ENST00000549793.5:n.1881T>C
ENST00000567071.5:c.109T>C
ENST00000569827.5:c.114T>C	ENSP00000454379.1:p.Pro38=
ENST00000638141.2:n.1521T>C
ENST00000673646.1:c.114T>C	ENSP00000501007.1:p.Pro38=
ENST00000673705.1:c.309+3255T>C	ENSP00000501021.1:n.309+3255T>C
ENST00000673813.1:n.572T>C