Canonical Allele Identifier: CA391999728

Gene: CAPN3

Linked Data

• MyVariant Identifiers: chr15:g.42693869T>A (hg19) ; chr15:g.42401671T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401671T>A , CM000677.2:g.42401671T>A	GRCh38
NC_000015.9:g.42693869T>A , CM000677.1:g.42693869T>A	GRCh37
NC_000015.8:g.40481161T>A	NCBI36
NG_008660.1:g.58569T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1241T>A	ENSP00000183936.4:p.Leu414Gln
ENST00000357568.8:c.1385T>A	ENSP00000350181.3:p.Leu462Gln
ENST00000397163.8:c.1385T>A MANE Select	ENSP00000380349.3:p.Leu462Gln
ENST00000466369.5:n.1894T>A
ENST00000483208.5:n.1616T>A
ENST00000495723.1:n.1616T>A
ENST00000549793.5:n.1616T>A
ENST00000638141.2:n.1256T>A
ENST00000673705.1:c.309+2019T>A	ENSP00000501021.1:n.309+2019T>A
ENST00000318023.11:c.1241T>A	ENSP00000326281.8:p.Leu414Gln
ENST00000349748.7:c.1241T>A	ENSP00000183936.4:p.Leu414Gln
ENST00000357568.7:c.1385T>A	ENSP00000350181.3:p.Leu462Gln
ENST00000397163.7:c.1385T>A	ENSP00000380349.3:p.Leu462Gln
NM_000070.2:c.1385T>A	NP_000061.1:p.Leu462Gln
NM_024344.1:c.1385T>A	NP_077320.1:p.Leu462Gln
NM_173087.1:c.1241T>A	NP_775110.1:p.Leu414Gln
NM_000070.3:c.1385T>A MANE Select	NP_000061.1:p.Leu462Gln
NM_024344.2:c.1385T>A	NP_077320.1:p.Leu462Gln
NM_173087.2:c.1241T>A	NP_775110.1:p.Leu414Gln