Canonical Allele Identifier: CA475010773

Gene: CAPN1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65188625G>A , CM000673.2:g.65188625G>A	GRCh38
NC_000011.9:g.64956096G>A , CM000673.1:g.64956096G>A	GRCh37
NC_000011.8:g.64712672G>A	NCBI36
NG_052817.1:g.12411G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005186.4:c.1044G>A MANE Select	NP_005177.2:p.Leu348=
ENST00000279247.11:c.1044G>A MANE Select	ENSP00000279247.7:p.Leu348=
NM_001198868.1:c.1044G>A	NP_001185797.1:p.Leu348=
NM_001198868.2:c.1044G>A	NP_001185797.1:p.Leu348=
NM_001198869.1:c.1044G>A	NP_001185798.1:p.Leu348=
NM_001198869.2:c.1044G>A	NP_001185798.1:p.Leu348=
NM_005186.3:c.1044G>A	NP_005177.2:p.Leu348=
NR_040008.1:n.1156G>A
NR_040008.2:n.1061G>A
ENST00000279247.10:c.1044G>A	ENSP00000279247.6:p.Leu348=
ENST00000524773.5:c.1044G>A	ENSP00000434176.1:p.Leu348=
ENST00000527323.5:c.1044G>A	ENSP00000431984.1:p.Leu348=
ENST00000527887.1:n.284G>A
ENST00000533079.5:n.215G>A
ENST00000533129.5:c.1044G>A	ENSP00000431686.1:p.Leu348=
ENST00000533820.5:c.1044G>A	ENSP00000435272.1:p.Leu348=
XM_006718698.1:c.1044G>A	XP_006718761.1:p.Leu348=
XM_006718698.2:c.1044G>A	XP_006718761.1:p.Leu348=
XM_011545292.1:c.1044G>A	XP_011543594.1:p.Leu348=