Canonical Allele Identifier: CA392000444

Gene: CAPN3

Linked Data

• dbSNP Id: rs2053917660
• gnomAD v3: 15-42402974-G-A
• gnomAD v4: 15-42402974-G-A
• MyVariant Identifiers: chr15:g.42695172G>A (hg19) ; chr15:g.42402974G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402974G>A , CM000677.2:g.42402974G>A	GRCh38
NC_000015.9:g.42695172G>A , CM000677.1:g.42695172G>A	GRCh37
NC_000015.8:g.40482464G>A	NCBI36
NG_008660.1:g.59872G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1573G>A	ENSP00000183936.4:p.Val525Ile
ENST00000357568.8:c.1717G>A	ENSP00000350181.3:p.Val573Ile
ENST00000397163.8:c.1717G>A MANE Select	ENSP00000380349.3:p.Val573Ile
ENST00000466369.5:n.2226G>A
ENST00000483208.5:n.2606G>A
ENST00000495723.1:n.2606G>A
ENST00000549793.5:n.1948G>A
ENST00000638141.2:n.1588G>A
ENST00000673646.1:c.181G>A	ENSP00000501007.1:p.Val61Ile
ENST00000673705.1:c.309+3322G>A	ENSP00000501021.1:n.309+3322G>A
ENST00000673813.1:n.580+59G>A
ENST00000318023.11:c.1573G>A	ENSP00000326281.8:p.Val525Ile
ENST00000349748.7:c.1573G>A	ENSP00000183936.4:p.Val525Ile
ENST00000357568.7:c.1717G>A	ENSP00000350181.3:p.Val573Ile
ENST00000397163.7:c.1717G>A	ENSP00000380349.3:p.Val573Ile
ENST00000397200.8:c.181G>A	ENSP00000380384.4:p.Val61Ile
ENST00000567071.5:c.176G>A
ENST00000569827.5:c.181G>A	ENSP00000454379.1:p.Val61Ile
NM_000070.2:c.1717G>A	NP_000061.1:p.Val573Ile
NM_024344.1:c.1717G>A	NP_077320.1:p.Val573Ile
NM_173087.1:c.1573G>A	NP_775110.1:p.Val525Ile
NM_173088.1:c.181G>A	NP_775111.1:p.Val61Ile
NM_000070.3:c.1717G>A MANE Select	NP_000061.1:p.Val573Ile
NM_024344.2:c.1717G>A	NP_077320.1:p.Val573Ile
NM_173087.2:c.1573G>A	NP_775110.1:p.Val525Ile
NM_173088.2:c.181G>A	NP_775111.1:p.Val61Ile