Canonical Allele Identifier: CA489885105

Gene: CAPN3

Linked Data

• gnomAD v4: 15-42402902-C-T
• MyVariant Identifiers: chr15:g.42695100C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402902C>T , CM000677.2:g.42402902C>T	GRCh38
NC_000015.9:g.42695100C>T , CM000677.1:g.42695100C>T	GRCh37
NC_000015.8:g.40482392C>T	NCBI36
NG_008660.1:g.59800C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1501C>T	ENSP00000183936.4:p.Leu501=
ENST00000357568.8:c.1645C>T	ENSP00000350181.3:p.Leu549=
ENST00000397163.8:c.1645C>T MANE Select	ENSP00000380349.3:p.Leu549=
ENST00000466369.5:n.2154C>T
ENST00000483208.5:n.2534C>T
ENST00000495723.1:n.2534C>T
ENST00000549793.5:n.1876C>T
ENST00000638141.2:n.1516C>T
ENST00000673646.1:c.109C>T	ENSP00000501007.1:p.Leu37=
ENST00000673705.1:c.309+3250C>T	ENSP00000501021.1:n.309+3250C>T
ENST00000673813.1:n.567C>T
ENST00000318023.11:c.1501C>T	ENSP00000326281.8:p.Leu501=
ENST00000349748.7:c.1501C>T	ENSP00000183936.4:p.Leu501=
ENST00000357568.7:c.1645C>T	ENSP00000350181.3:p.Leu549=
ENST00000397163.7:c.1645C>T	ENSP00000380349.3:p.Leu549=
ENST00000397200.8:c.109C>T	ENSP00000380384.4:p.Leu37=
ENST00000567071.5:c.104C>T
ENST00000569827.5:c.109C>T	ENSP00000454379.1:p.Leu37=
NM_000070.2:c.1645C>T	NP_000061.1:p.Leu549=
NM_024344.1:c.1645C>T	NP_077320.1:p.Leu549=
NM_173087.1:c.1501C>T	NP_775110.1:p.Leu501=
NM_173088.1:c.109C>T	NP_775111.1:p.Leu37=
NM_000070.3:c.1645C>T MANE Select	NP_000061.1:p.Leu549=
NM_024344.2:c.1645C>T	NP_077320.1:p.Leu549=
NM_173087.2:c.1501C>T	NP_775110.1:p.Leu501=
NM_173088.2:c.109C>T	NP_775111.1:p.Leu37=