Canonical Allele Identifier: CA489878911

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1577159
• ClinVar RCV Id: RCV002087842
• dbSNP Id: rs2141168232
• MyVariant Identifiers: chr15:g.42681291T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389093T>C , CM000677.2:g.42389093T>C	GRCh38
NC_000015.9:g.42681291T>C , CM000677.1:g.42681291T>C	GRCh37
NC_000015.8:g.40468583T>C	NCBI36
NG_008660.1:g.45991T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.798T>C	ENSP00000183936.4:p.Ile266=
ENST00000357568.8:c.798T>C	ENSP00000350181.3:p.Ile266=
ENST00000397163.8:c.798T>C MANE Select	ENSP00000380349.3:p.Ile266=
ENST00000466369.5:n.1307T>C
ENST00000483208.5:n.1029T>C
ENST00000495723.1:n.1029T>C
ENST00000549793.5:n.1029T>C
ENST00000638141.2:n.813T>C
ENST00000673705.1:c.70+4541T>C	ENSP00000501021.1:n.70+4541T>C
ENST00000318023.11:c.798T>C	ENSP00000326281.8:p.Ile266=
ENST00000349748.7:c.798T>C	ENSP00000183936.4:p.Ile266=
ENST00000357568.7:c.798T>C	ENSP00000350181.3:p.Ile266=
ENST00000397163.7:c.798T>C	ENSP00000380349.3:p.Ile266=
NM_000070.2:c.798T>C	NP_000061.1:p.Ile266=
NM_024344.1:c.798T>C	NP_077320.1:p.Ile266=
NM_173087.1:c.798T>C	NP_775110.1:p.Ile266=
NM_000070.3:c.798T>C MANE Select	NP_000061.1:p.Ile266=
NM_024344.2:c.798T>C	NP_077320.1:p.Ile266=
NM_173087.2:c.798T>C	NP_775110.1:p.Ile266=