Canonical Allele Identifier: CA7511444

Gene: CAPN3

Linked Data

• dbSNP Id: rs757016558
• ExAC: 15:42695043 T / G
• gnomAD v2: 15-42695043-T-G
• gnomAD v3: 15-42402845-T-G
• gnomAD v4: 15-42402845-T-G
• MyVariant Identifiers: chr15:g.42695043T>G (hg19) ; chr15:g.42402845T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402845T>G , CM000677.2:g.42402845T>G	GRCh38
NC_000015.9:g.42695043T>G , CM000677.1:g.42695043T>G	GRCh37
NC_000015.8:g.40482335T>G	NCBI36
NG_008660.1:g.59743T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1444T>G	ENSP00000183936.4:p.Ser482Ala
ENST00000357568.8:c.1588T>G	ENSP00000350181.3:p.Ser530Ala
ENST00000397163.8:c.1588T>G MANE Select	ENSP00000380349.3:p.Ser530Ala
ENST00000466369.5:n.2097T>G
ENST00000483208.5:n.2477T>G
ENST00000495723.1:n.2477T>G
ENST00000549793.5:n.1819T>G
ENST00000638141.2:n.1459T>G
ENST00000673646.1:c.52T>G	ENSP00000501007.1:p.Ser18Ala
ENST00000673705.1:c.309+3193T>G	ENSP00000501021.1:n.309+3193T>G
ENST00000673813.1:n.510T>G
ENST00000318023.11:c.1444T>G	ENSP00000326281.8:p.Ser482Ala
ENST00000349748.7:c.1444T>G	ENSP00000183936.4:p.Ser482Ala
ENST00000357568.7:c.1588T>G	ENSP00000350181.3:p.Ser530Ala
ENST00000397163.7:c.1588T>G	ENSP00000380349.3:p.Ser530Ala
ENST00000397200.8:c.52T>G	ENSP00000380384.4:p.Ser18Ala
ENST00000567071.5:c.47T>G
ENST00000569827.5:c.52T>G	ENSP00000454379.1:p.Ser18Ala
NM_000070.2:c.1588T>G	NP_000061.1:p.Ser530Ala
NM_024344.1:c.1588T>G	NP_077320.1:p.Ser530Ala
NM_173087.1:c.1444T>G	NP_775110.1:p.Ser482Ala
NM_173088.1:c.52T>G	NP_775111.1:p.Ser18Ala
NM_000070.3:c.1588T>G MANE Select	NP_000061.1:p.Ser530Ala
NM_024344.2:c.1588T>G	NP_077320.1:p.Ser530Ala
NM_173087.2:c.1444T>G	NP_775110.1:p.Ser482Ala
NM_173088.2:c.52T>G	NP_775111.1:p.Ser18Ala