Canonical Allele Identifier: CA392000362

Gene: CAPN3

Linked Data

• dbSNP Id: rs1595838688
• MyVariant Identifiers: chr15:g.42695130T>A (hg19) ; chr15:g.42402932T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402932T>A , CM000677.2:g.42402932T>A	GRCh38
NC_000015.9:g.42695130T>A , CM000677.1:g.42695130T>A	GRCh37
NC_000015.8:g.40482422T>A	NCBI36
NG_008660.1:g.59830T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1531T>A	ENSP00000183936.4:p.Ser511Thr
ENST00000357568.8:c.1675T>A	ENSP00000350181.3:p.Ser559Thr
ENST00000397163.8:c.1675T>A MANE Select	ENSP00000380349.3:p.Ser559Thr
ENST00000466369.5:n.2184T>A
ENST00000483208.5:n.2564T>A
ENST00000495723.1:n.2564T>A
ENST00000549793.5:n.1906T>A
ENST00000638141.2:n.1546T>A
ENST00000673646.1:c.139T>A	ENSP00000501007.1:p.Ser47Thr
ENST00000673705.1:c.309+3280T>A	ENSP00000501021.1:n.309+3280T>A
ENST00000673813.1:n.580+17T>A
ENST00000318023.11:c.1531T>A	ENSP00000326281.8:p.Ser511Thr
ENST00000349748.7:c.1531T>A	ENSP00000183936.4:p.Ser511Thr
ENST00000357568.7:c.1675T>A	ENSP00000350181.3:p.Ser559Thr
ENST00000397163.7:c.1675T>A	ENSP00000380349.3:p.Ser559Thr
ENST00000397200.8:c.139T>A	ENSP00000380384.4:p.Ser47Thr
ENST00000567071.5:c.134T>A
ENST00000569827.5:c.139T>A	ENSP00000454379.1:p.Ser47Thr
NM_000070.2:c.1675T>A	NP_000061.1:p.Ser559Thr
NM_024344.1:c.1675T>A	NP_077320.1:p.Ser559Thr
NM_173087.1:c.1531T>A	NP_775110.1:p.Ser511Thr
NM_173088.1:c.139T>A	NP_775111.1:p.Ser47Thr
NM_000070.3:c.1675T>A MANE Select	NP_000061.1:p.Ser559Thr
NM_024344.2:c.1675T>A	NP_077320.1:p.Ser559Thr
NM_173087.2:c.1531T>A	NP_775110.1:p.Ser511Thr
NM_173088.2:c.139T>A	NP_775111.1:p.Ser47Thr