Canonical Allele Identifier: CA392000490

Gene: CAPN3

Linked Data

• gnomAD v4: 15-42402993-A-T
• MyVariant Identifiers: chr15:g.42695191A>T (hg19) ; chr15:g.42402993A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402993A>T , CM000677.2:g.42402993A>T	GRCh38
NC_000015.9:g.42695191A>T , CM000677.1:g.42695191A>T	GRCh37
NC_000015.8:g.40482483A>T	NCBI36
NG_008660.1:g.59891A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1592A>T	ENSP00000183936.4:p.Asn531Ile
ENST00000357568.8:c.1736A>T	ENSP00000350181.3:p.Asn579Ile
ENST00000397163.8:c.1736A>T MANE Select	ENSP00000380349.3:p.Asn579Ile
ENST00000466369.5:n.2245A>T
ENST00000483208.5:n.2625A>T
ENST00000495723.1:n.2625A>T
ENST00000549793.5:n.1967A>T
ENST00000638141.2:n.1607A>T
ENST00000673646.1:c.200A>T	ENSP00000501007.1:p.Asn67Ile
ENST00000673705.1:c.309+3341A>T	ENSP00000501021.1:n.309+3341A>T
ENST00000673813.1:n.580+78A>T
ENST00000318023.11:c.1592A>T	ENSP00000326281.8:p.Asn531Ile
ENST00000349748.7:c.1592A>T	ENSP00000183936.4:p.Asn531Ile
ENST00000357568.7:c.1736A>T	ENSP00000350181.3:p.Asn579Ile
ENST00000397163.7:c.1736A>T	ENSP00000380349.3:p.Asn579Ile
ENST00000397200.8:c.200A>T	ENSP00000380384.4:p.Asn67Ile
ENST00000567071.5:c.195A>T
ENST00000569827.5:c.200A>T	ENSP00000454379.1:p.Asn67Ile
NM_000070.2:c.1736A>T	NP_000061.1:p.Asn579Ile
NM_024344.1:c.1736A>T	NP_077320.1:p.Asn579Ile
NM_173087.1:c.1592A>T	NP_775110.1:p.Asn531Ile
NM_173088.1:c.200A>T	NP_775111.1:p.Asn67Ile
NM_000070.3:c.1736A>T MANE Select	NP_000061.1:p.Asn579Ile
NM_024344.2:c.1736A>T	NP_077320.1:p.Asn579Ile
NM_173087.2:c.1592A>T	NP_775110.1:p.Asn531Ile
NM_173088.2:c.200A>T	NP_775111.1:p.Asn67Ile