Canonical Allele Identifier: CA391999973

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1180653
• ClinVar RCV Id: RCV001814382 ; RCV001873811
• dbSNP Id: rs751104396
• MyVariant Identifiers: chr15:g.42693986C>T (hg19) ; chr15:g.42401788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401788C>T , CM000677.2:g.42401788C>T	GRCh38
NC_000015.9:g.42693986C>T , CM000677.1:g.42693986C>T	GRCh37
NC_000015.8:g.40481278C>T	NCBI36
NG_008660.1:g.58686C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1358C>T	ENSP00000183936.4:p.Thr453Ile
ENST00000357568.8:c.1502C>T	ENSP00000350181.3:p.Thr501Ile
ENST00000397163.8:c.1502C>T MANE Select	ENSP00000380349.3:p.Thr501Ile
ENST00000466369.5:n.2011C>T
ENST00000483208.5:n.1733C>T
ENST00000495723.1:n.1733C>T
ENST00000549793.5:n.1733C>T
ENST00000638141.2:n.1373C>T
ENST00000673705.1:c.309+2136C>T	ENSP00000501021.1:n.309+2136C>T
ENST00000318023.11:c.1358C>T	ENSP00000326281.8:p.Thr453Ile
ENST00000349748.7:c.1358C>T	ENSP00000183936.4:p.Thr453Ile
ENST00000357568.7:c.1502C>T	ENSP00000350181.3:p.Thr501Ile
ENST00000397163.7:c.1502C>T	ENSP00000380349.3:p.Thr501Ile
NM_000070.2:c.1502C>T	NP_000061.1:p.Thr501Ile
NM_024344.1:c.1502C>T	NP_077320.1:p.Thr501Ile
NM_173087.1:c.1358C>T	NP_775110.1:p.Thr453Ile
NM_000070.3:c.1502C>T MANE Select	NP_000061.1:p.Thr501Ile
NM_024344.2:c.1502C>T	NP_077320.1:p.Thr501Ile
NM_173087.2:c.1358C>T	NP_775110.1:p.Thr453Ile