Canonical Allele Identifier: CA392000401

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 2680383
• ClinVar RCV Id: RCV003460320
• MyVariant Identifiers: chr15:g.42695148C>T (hg19) ; chr15:g.42402950C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402950C>T , CM000677.2:g.42402950C>T	GRCh38
NC_000015.9:g.42695148C>T , CM000677.1:g.42695148C>T	GRCh37
NC_000015.8:g.40482440C>T	NCBI36
NG_008660.1:g.59848C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1549C>T	ENSP00000183936.4:p.Gln517Ter
ENST00000357568.8:c.1693C>T	ENSP00000350181.3:p.Gln565Ter
ENST00000397163.8:c.1693C>T MANE Select	ENSP00000380349.3:p.Gln565Ter
ENST00000466369.5:n.2202C>T
ENST00000483208.5:n.2582C>T
ENST00000495723.1:n.2582C>T
ENST00000549793.5:n.1924C>T
ENST00000638141.2:n.1564C>T
ENST00000673646.1:c.157C>T	ENSP00000501007.1:p.Gln53Ter
ENST00000673705.1:c.309+3298C>T	ENSP00000501021.1:n.309+3298C>T
ENST00000673813.1:n.580+35C>T
ENST00000318023.11:c.1549C>T	ENSP00000326281.8:p.Gln517Ter
ENST00000349748.7:c.1549C>T	ENSP00000183936.4:p.Gln517Ter
ENST00000357568.7:c.1693C>T	ENSP00000350181.3:p.Gln565Ter
ENST00000397163.7:c.1693C>T	ENSP00000380349.3:p.Gln565Ter
ENST00000397200.8:c.157C>T	ENSP00000380384.4:p.Gln53Ter
ENST00000567071.5:c.152C>T
ENST00000569827.5:c.157C>T	ENSP00000454379.1:p.Gln53Ter
NM_000070.2:c.1693C>T	NP_000061.1:p.Gln565Ter
NM_024344.1:c.1693C>T	NP_077320.1:p.Gln565Ter
NM_173087.1:c.1549C>T	NP_775110.1:p.Gln517Ter
NM_173088.1:c.157C>T	NP_775111.1:p.Gln53Ter
NM_000070.3:c.1693C>T MANE Select	NP_000061.1:p.Gln565Ter
NM_024344.2:c.1693C>T	NP_077320.1:p.Gln565Ter
NM_173087.2:c.1549C>T	NP_775110.1:p.Gln517Ter
NM_173088.2:c.157C>T	NP_775111.1:p.Gln53Ter