Canonical Allele Identifier: CA392000280

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 2104729
• ClinVar RCV Id: RCV003041769 ; RCV003146735
• COSMIC: COSM135664
• MyVariant Identifiers: chr15:g.42695086C>T (hg19) ; chr15:g.42402888C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402888C>T , CM000677.2:g.42402888C>T	GRCh38
NC_000015.9:g.42695086C>T , CM000677.1:g.42695086C>T	GRCh37
NC_000015.8:g.40482378C>T	NCBI36
NG_008660.1:g.59786C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1487C>T	ENSP00000183936.4:p.Ser496Phe
ENST00000357568.8:c.1631C>T	ENSP00000350181.3:p.Ser544Phe
ENST00000397163.8:c.1631C>T MANE Select	ENSP00000380349.3:p.Ser544Phe
ENST00000466369.5:n.2140C>T
ENST00000483208.5:n.2520C>T
ENST00000495723.1:n.2520C>T
ENST00000549793.5:n.1862C>T
ENST00000638141.2:n.1502C>T
ENST00000673646.1:c.95C>T	ENSP00000501007.1:p.Ser32Phe
ENST00000673705.1:c.309+3236C>T	ENSP00000501021.1:n.309+3236C>T
ENST00000673813.1:n.553C>T
ENST00000318023.11:c.1487C>T	ENSP00000326281.8:p.Ser496Phe
ENST00000349748.7:c.1487C>T	ENSP00000183936.4:p.Ser496Phe
ENST00000357568.7:c.1631C>T	ENSP00000350181.3:p.Ser544Phe
ENST00000397163.7:c.1631C>T	ENSP00000380349.3:p.Ser544Phe
ENST00000397200.8:c.95C>T	ENSP00000380384.4:p.Ser32Phe
ENST00000567071.5:c.90C>T
ENST00000569827.5:c.95C>T	ENSP00000454379.1:p.Ser32Phe
NM_000070.2:c.1631C>T	NP_000061.1:p.Ser544Phe
NM_024344.1:c.1631C>T	NP_077320.1:p.Ser544Phe
NM_173087.1:c.1487C>T	NP_775110.1:p.Ser496Phe
NM_173088.1:c.95C>T	NP_775111.1:p.Ser32Phe
NM_000070.3:c.1631C>T MANE Select	NP_000061.1:p.Ser544Phe
NM_024344.2:c.1631C>T	NP_077320.1:p.Ser544Phe
NM_173087.2:c.1487C>T	NP_775110.1:p.Ser496Phe
NM_173088.2:c.95C>T	NP_775111.1:p.Ser32Phe