Canonical Allele Identifier: CA391994588

Gene: CAPN3

Linked Data

• MyVariant Identifiers: chr15:g.42652163A>T (hg19) ; chr15:g.42359965A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42359965A>T , CM000677.2:g.42359965A>T	GRCh38
NC_000015.9:g.42652163A>T , CM000677.1:g.42652163A>T	GRCh37
NC_000015.8:g.40439455A>T	NCBI36
NG_008660.1:g.16863A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.160A>T	ENSP00000183936.4:p.Ile54Phe
ENST00000357568.8:c.160A>T	ENSP00000350181.3:p.Ile54Phe
ENST00000397163.8:c.160A>T MANE Select	ENSP00000380349.3:p.Ile54Phe
ENST00000466369.5:n.540+5512A>T
ENST00000483208.5:n.540+5512A>T
ENST00000495723.1:n.540+5512A>T
ENST00000549793.5:n.540+5512A>T
ENST00000318023.11:c.160A>T	ENSP00000326281.8:p.Ile54Phe
ENST00000349748.7:c.160A>T	ENSP00000183936.4:p.Ile54Phe
ENST00000357568.7:c.160A>T	ENSP00000350181.3:p.Ile54Phe
ENST00000397163.7:c.160A>T	ENSP00000380349.3:p.Ile54Phe
NM_000070.2:c.160A>T	NP_000061.1:p.Ile54Phe
NM_024344.1:c.160A>T	NP_077320.1:p.Ile54Phe
NM_173087.1:c.160A>T	NP_775110.1:p.Ile54Phe
NM_000070.3:c.160A>T MANE Select	NP_000061.1:p.Ile54Phe
NM_024344.2:c.160A>T	NP_077320.1:p.Ile54Phe
NM_173087.2:c.160A>T	NP_775110.1:p.Ile54Phe