Canonical Allele Identifier: CA391997974

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 2285091
• ClinVar RCV Id: RCV002831563
• MyVariant Identifiers: chr15:g.42680057G>T (hg19) ; chr15:g.42387859G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42387859G>T , CM000677.2:g.42387859G>T	GRCh38
NC_000015.9:g.42680057G>T , CM000677.1:g.42680057G>T	GRCh37
NC_000015.8:g.40467349G>T	NCBI36
NG_008660.1:g.44757G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.605G>T	ENSP00000183936.4:p.Ser202Ile
ENST00000357568.8:c.605G>T	ENSP00000350181.3:p.Ser202Ile
ENST00000397163.8:c.605G>T MANE Select	ENSP00000380349.3:p.Ser202Ile
ENST00000466369.5:n.1114G>T
ENST00000483208.5:n.836G>T
ENST00000495723.1:n.836G>T
ENST00000549793.5:n.836G>T
ENST00000638141.2:n.620G>T
ENST00000673705.1:c.70+3307G>T	ENSP00000501021.1:n.70+3307G>T
ENST00000318023.11:c.605G>T	ENSP00000326281.8:p.Ser202Ile
ENST00000349748.7:c.605G>T	ENSP00000183936.4:p.Ser202Ile
ENST00000357568.7:c.605G>T	ENSP00000350181.3:p.Ser202Ile
ENST00000397163.7:c.605G>T	ENSP00000380349.3:p.Ser202Ile
NM_000070.2:c.605G>T	NP_000061.1:p.Ser202Ile
NM_024344.1:c.605G>T	NP_077320.1:p.Ser202Ile
NM_173087.1:c.605G>T	NP_775110.1:p.Ser202Ile
NM_000070.3:c.605G>T MANE Select	NP_000061.1:p.Ser202Ile
NM_024344.2:c.605G>T	NP_077320.1:p.Ser202Ile
NM_173087.2:c.605G>T	NP_775110.1:p.Ser202Ile