Canonical Allele Identifier: CA392000156

Gene: CAPN3

Linked Data

• MyVariant Identifiers: chr15:g.42695028T>G (hg19) ; chr15:g.42402830T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402830T>G , CM000677.2:g.42402830T>G	GRCh38
NC_000015.9:g.42695028T>G , CM000677.1:g.42695028T>G	GRCh37
NC_000015.8:g.40482320T>G	NCBI36
NG_008660.1:g.59728T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1429T>G	ENSP00000183936.4:p.Phe477Val
ENST00000357568.8:c.1573T>G	ENSP00000350181.3:p.Phe525Val
ENST00000397163.8:c.1573T>G MANE Select	ENSP00000380349.3:p.Phe525Val
ENST00000466369.5:n.2082T>G
ENST00000483208.5:n.2462T>G
ENST00000495723.1:n.2462T>G
ENST00000549793.5:n.1804T>G
ENST00000638141.2:n.1444T>G
ENST00000673646.1:c.37T>G	ENSP00000501007.1:p.Phe13Val
ENST00000673705.1:c.309+3178T>G	ENSP00000501021.1:n.309+3178T>G
ENST00000673813.1:n.495T>G
ENST00000318023.11:c.1429T>G	ENSP00000326281.8:p.Phe477Val
ENST00000349748.7:c.1429T>G	ENSP00000183936.4:p.Phe477Val
ENST00000357568.7:c.1573T>G	ENSP00000350181.3:p.Phe525Val
ENST00000397163.7:c.1573T>G	ENSP00000380349.3:p.Phe525Val
ENST00000397200.8:c.37T>G	ENSP00000380384.4:p.Phe13Val
ENST00000567071.5:c.32T>G
ENST00000569827.5:c.37T>G	ENSP00000454379.1:p.Phe13Val
NM_000070.2:c.1573T>G	NP_000061.1:p.Phe525Val
NM_024344.1:c.1573T>G	NP_077320.1:p.Phe525Val
NM_173087.1:c.1429T>G	NP_775110.1:p.Phe477Val
NM_173088.1:c.37T>G	NP_775111.1:p.Phe13Val
NM_000070.3:c.1573T>G MANE Select	NP_000061.1:p.Phe525Val
NM_024344.2:c.1573T>G	NP_077320.1:p.Phe525Val
NM_173087.2:c.1429T>G	NP_775110.1:p.Phe477Val
NM_173088.2:c.37T>G	NP_775111.1:p.Phe13Val