Canonical Allele Identifier: CA392000363

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 807218
• ClinVar RCV Id: RCV000995302
• dbSNP Id: rs1595838688
• MyVariant Identifiers: chr15:g.42695130T>C (hg19) ; chr15:g.42402932T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402932T>C , CM000677.2:g.42402932T>C	GRCh38
NC_000015.9:g.42695130T>C , CM000677.1:g.42695130T>C	GRCh37
NC_000015.8:g.40482422T>C	NCBI36
NG_008660.1:g.59830T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1531T>C	ENSP00000183936.4:p.Ser511Pro
ENST00000357568.8:c.1675T>C	ENSP00000350181.3:p.Ser559Pro
ENST00000397163.8:c.1675T>C MANE Select	ENSP00000380349.3:p.Ser559Pro
ENST00000466369.5:n.2184T>C
ENST00000483208.5:n.2564T>C
ENST00000495723.1:n.2564T>C
ENST00000549793.5:n.1906T>C
ENST00000638141.2:n.1546T>C
ENST00000673646.1:c.139T>C	ENSP00000501007.1:p.Ser47Pro
ENST00000673705.1:c.309+3280T>C	ENSP00000501021.1:n.309+3280T>C
ENST00000673813.1:n.580+17T>C
ENST00000318023.11:c.1531T>C	ENSP00000326281.8:p.Ser511Pro
ENST00000349748.7:c.1531T>C	ENSP00000183936.4:p.Ser511Pro
ENST00000357568.7:c.1675T>C	ENSP00000350181.3:p.Ser559Pro
ENST00000397163.7:c.1675T>C	ENSP00000380349.3:p.Ser559Pro
ENST00000397200.8:c.139T>C	ENSP00000380384.4:p.Ser47Pro
ENST00000567071.5:c.134T>C
ENST00000569827.5:c.139T>C	ENSP00000454379.1:p.Ser47Pro
NM_000070.2:c.1675T>C	NP_000061.1:p.Ser559Pro
NM_024344.1:c.1675T>C	NP_077320.1:p.Ser559Pro
NM_173087.1:c.1531T>C	NP_775110.1:p.Ser511Pro
NM_173088.1:c.139T>C	NP_775111.1:p.Ser47Pro
NM_000070.3:c.1675T>C MANE Select	NP_000061.1:p.Ser559Pro
NM_024344.2:c.1675T>C	NP_077320.1:p.Ser559Pro
NM_173087.2:c.1531T>C	NP_775110.1:p.Ser511Pro
NM_173088.2:c.139T>C	NP_775111.1:p.Ser47Pro