Canonical Allele Identifier: CA391999718

Gene: CAPN3

Linked Data

• MyVariant Identifiers: chr15:g.42693864C>G (hg19) ; chr15:g.42401666C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401666C>G , CM000677.2:g.42401666C>G	GRCh38
NC_000015.9:g.42693864C>G , CM000677.1:g.42693864C>G	GRCh37
NC_000015.8:g.40481156C>G	NCBI36
NG_008660.1:g.58564C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1236C>G	ENSP00000183936.4:p.Tyr412Ter
ENST00000357568.8:c.1380C>G	ENSP00000350181.3:p.Tyr460Ter
ENST00000397163.8:c.1380C>G MANE Select	ENSP00000380349.3:p.Tyr460Ter
ENST00000466369.5:n.1889C>G
ENST00000483208.5:n.1611C>G
ENST00000495723.1:n.1611C>G
ENST00000549793.5:n.1611C>G
ENST00000638141.2:n.1251C>G
ENST00000673705.1:c.309+2014C>G	ENSP00000501021.1:n.309+2014C>G
ENST00000318023.11:c.1236C>G	ENSP00000326281.8:p.Tyr412Ter
ENST00000349748.7:c.1236C>G	ENSP00000183936.4:p.Tyr412Ter
ENST00000357568.7:c.1380C>G	ENSP00000350181.3:p.Tyr460Ter
ENST00000397163.7:c.1380C>G	ENSP00000380349.3:p.Tyr460Ter
NM_000070.2:c.1380C>G	NP_000061.1:p.Tyr460Ter
NM_024344.1:c.1380C>G	NP_077320.1:p.Tyr460Ter
NM_173087.1:c.1236C>G	NP_775110.1:p.Tyr412Ter
NM_000070.3:c.1380C>G MANE Select	NP_000061.1:p.Tyr460Ter
NM_024344.2:c.1380C>G	NP_077320.1:p.Tyr460Ter
NM_173087.2:c.1236C>G	NP_775110.1:p.Tyr412Ter