Canonical Allele Identifier: CA7511460

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 571763
• ClinVar RCV Id: RCV000692992
• dbSNP Id: rs138172448
• ExAC: 15:42695118 G / C
• gnomAD v2: 15-42695118-G-C
• gnomAD v4: 15-42402920-G-C
• MyVariant Identifiers: chr15:g.42695118G>C (hg19) ; chr15:g.42402920G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402920G>C , CM000677.2:g.42402920G>C	GRCh38
NC_000015.9:g.42695118G>C , CM000677.1:g.42695118G>C	GRCh37
NC_000015.8:g.40482410G>C	NCBI36
NG_008660.1:g.59818G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1519G>C	ENSP00000183936.4:p.Val507Leu
ENST00000357568.8:c.1663G>C	ENSP00000350181.3:p.Val555Leu
ENST00000397163.8:c.1663G>C MANE Select	ENSP00000380349.3:p.Val555Leu
ENST00000466369.5:n.2172G>C
ENST00000483208.5:n.2552G>C
ENST00000495723.1:n.2552G>C
ENST00000549793.5:n.1894G>C
ENST00000638141.2:n.1534G>C
ENST00000673646.1:c.127G>C	ENSP00000501007.1:p.Val43Leu
ENST00000673705.1:c.309+3268G>C	ENSP00000501021.1:n.309+3268G>C
ENST00000673813.1:n.580+5G>C
ENST00000318023.11:c.1519G>C	ENSP00000326281.8:p.Val507Leu
ENST00000349748.7:c.1519G>C	ENSP00000183936.4:p.Val507Leu
ENST00000357568.7:c.1663G>C	ENSP00000350181.3:p.Val555Leu
ENST00000397163.7:c.1663G>C	ENSP00000380349.3:p.Val555Leu
ENST00000397200.8:c.127G>C	ENSP00000380384.4:p.Val43Leu
ENST00000567071.5:c.122G>C
ENST00000569827.5:c.127G>C	ENSP00000454379.1:p.Val43Leu
NM_000070.2:c.1663G>C	NP_000061.1:p.Val555Leu
NM_024344.1:c.1663G>C	NP_077320.1:p.Val555Leu
NM_173087.1:c.1519G>C	NP_775110.1:p.Val507Leu
NM_173088.1:c.127G>C	NP_775111.1:p.Val43Leu
NM_000070.3:c.1663G>C MANE Select	NP_000061.1:p.Val555Leu
NM_024344.2:c.1663G>C	NP_077320.1:p.Val555Leu
NM_173087.2:c.1519G>C	NP_775110.1:p.Val507Leu
NM_173088.2:c.127G>C	NP_775111.1:p.Val43Leu