Canonical Allele Identifier: CA489885136

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1089788
• ClinVar RCV Id: RCV001408732
• dbSNP Id: rs1205096877
• gnomAD v2: 15-42695129-C-T
• MyVariant Identifiers: chr15:g.42695129C>T (hg19) ; chr15:g.42402931C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402931C>T , CM000677.2:g.42402931C>T	GRCh38
NC_000015.9:g.42695129C>T , CM000677.1:g.42695129C>T	GRCh37
NC_000015.8:g.40482421C>T	NCBI36
NG_008660.1:g.59829C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1530C>T	ENSP00000183936.4:p.Pro510=
ENST00000357568.8:c.1674C>T	ENSP00000350181.3:p.Pro558=
ENST00000397163.8:c.1674C>T MANE Select	ENSP00000380349.3:p.Pro558=
ENST00000466369.5:n.2183C>T
ENST00000483208.5:n.2563C>T
ENST00000495723.1:n.2563C>T
ENST00000549793.5:n.1905C>T
ENST00000638141.2:n.1545C>T
ENST00000673646.1:c.138C>T	ENSP00000501007.1:p.Pro46=
ENST00000673705.1:c.309+3279C>T	ENSP00000501021.1:n.309+3279C>T
ENST00000673813.1:n.580+16C>T
ENST00000318023.11:c.1530C>T	ENSP00000326281.8:p.Pro510=
ENST00000349748.7:c.1530C>T	ENSP00000183936.4:p.Pro510=
ENST00000357568.7:c.1674C>T	ENSP00000350181.3:p.Pro558=
ENST00000397163.7:c.1674C>T	ENSP00000380349.3:p.Pro558=
ENST00000397200.8:c.138C>T	ENSP00000380384.4:p.Pro46=
ENST00000567071.5:c.133C>T
ENST00000569827.5:c.138C>T	ENSP00000454379.1:p.Pro46=
NM_000070.2:c.1674C>T	NP_000061.1:p.Pro558=
NM_024344.1:c.1674C>T	NP_077320.1:p.Pro558=
NM_173087.1:c.1530C>T	NP_775110.1:p.Pro510=
NM_173088.1:c.138C>T	NP_775111.1:p.Pro46=
NM_000070.3:c.1674C>T MANE Select	NP_000061.1:p.Pro558=
NM_024344.2:c.1674C>T	NP_077320.1:p.Pro558=
NM_173087.2:c.1530C>T	NP_775110.1:p.Pro510=
NM_173088.2:c.138C>T	NP_775111.1:p.Pro46=