Canonical Allele Identifier: CA391998327

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1726093
• ClinVar RCV Id: RCV002307064
• MyVariant Identifiers: chr15:g.42681253A>T (hg19) ; chr15:g.42389055A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389055A>T , CM000677.2:g.42389055A>T	GRCh38
NC_000015.9:g.42681253A>T , CM000677.1:g.42681253A>T	GRCh37
NC_000015.8:g.40468545A>T	NCBI36
NG_008660.1:g.45953A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.760A>T	ENSP00000183936.4:p.Lys254Ter
ENST00000357568.8:c.760A>T	ENSP00000350181.3:p.Lys254Ter
ENST00000397163.8:c.760A>T MANE Select	ENSP00000380349.3:p.Lys254Ter
ENST00000466369.5:n.1269A>T
ENST00000483208.5:n.991A>T
ENST00000495723.1:n.991A>T
ENST00000549793.5:n.991A>T
ENST00000638141.2:n.775A>T
ENST00000673705.1:c.70+4503A>T	ENSP00000501021.1:n.70+4503A>T
ENST00000318023.11:c.760A>T	ENSP00000326281.8:p.Lys254Ter
ENST00000349748.7:c.760A>T	ENSP00000183936.4:p.Lys254Ter
ENST00000357568.7:c.760A>T	ENSP00000350181.3:p.Lys254Ter
ENST00000397163.7:c.760A>T	ENSP00000380349.3:p.Lys254Ter
NM_000070.2:c.760A>T	NP_000061.1:p.Lys254Ter
NM_024344.1:c.760A>T	NP_077320.1:p.Lys254Ter
NM_173087.1:c.760A>T	NP_775110.1:p.Lys254Ter
NM_000070.3:c.760A>T MANE Select	NP_000061.1:p.Lys254Ter
NM_024344.2:c.760A>T	NP_077320.1:p.Lys254Ter
NM_173087.2:c.760A>T	NP_775110.1:p.Lys254Ter