Canonical Allele Identifier: CA392000494

Gene: CAPN3

Linked Data

• MyVariant Identifiers: chr15:g.42695193C>T (hg19) ; chr15:g.42402995C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402995C>T , CM000677.2:g.42402995C>T	GRCh38
NC_000015.9:g.42695193C>T , CM000677.1:g.42695193C>T	GRCh37
NC_000015.8:g.40482485C>T	NCBI36
NG_008660.1:g.59893C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1594C>T	ENSP00000183936.4:p.Leu532Phe
ENST00000357568.8:c.1738C>T	ENSP00000350181.3:p.Leu580Phe
ENST00000397163.8:c.1738C>T MANE Select	ENSP00000380349.3:p.Leu580Phe
ENST00000466369.5:n.2247C>T
ENST00000483208.5:n.2627C>T
ENST00000495723.1:n.2627C>T
ENST00000549793.5:n.1969C>T
ENST00000638141.2:n.1609C>T
ENST00000673646.1:c.202C>T	ENSP00000501007.1:p.Leu68Phe
ENST00000673705.1:c.309+3343C>T	ENSP00000501021.1:n.309+3343C>T
ENST00000673813.1:n.580+80C>T
ENST00000318023.11:c.1594C>T	ENSP00000326281.8:p.Leu532Phe
ENST00000349748.7:c.1594C>T	ENSP00000183936.4:p.Leu532Phe
ENST00000357568.7:c.1738C>T	ENSP00000350181.3:p.Leu580Phe
ENST00000397163.7:c.1738C>T	ENSP00000380349.3:p.Leu580Phe
ENST00000397200.8:c.202C>T	ENSP00000380384.4:p.Leu68Phe
ENST00000567071.5:c.197C>T
ENST00000569827.5:c.202C>T	ENSP00000454379.1:p.Leu68Phe
NM_000070.2:c.1738C>T	NP_000061.1:p.Leu580Phe
NM_024344.1:c.1738C>T	NP_077320.1:p.Leu580Phe
NM_173087.1:c.1594C>T	NP_775110.1:p.Leu532Phe
NM_173088.1:c.202C>T	NP_775111.1:p.Leu68Phe
NM_000070.3:c.1738C>T MANE Select	NP_000061.1:p.Leu580Phe
NM_024344.2:c.1738C>T	NP_077320.1:p.Leu580Phe
NM_173087.2:c.1594C>T	NP_775110.1:p.Leu532Phe
NM_173088.2:c.202C>T	NP_775111.1:p.Leu68Phe