Canonical Allele Identifier: CA6093247

Gene: CAPN1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65188477C>T , CM000673.2:g.65188477C>T	GRCh38
NC_000011.9:g.64955948C>T , CM000673.1:g.64955948C>T	GRCh37
NC_000011.8:g.64712524C>T	NCBI36
NG_052817.1:g.12263C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005186.4:c.993C>T MANE Select	NP_005177.2:p.Asp331=
ENST00000279247.11:c.993C>T MANE Select	ENSP00000279247.7:p.Asp331=
NM_001198868.1:c.993C>T	NP_001185797.1:p.Asp331=
NM_001198868.2:c.993C>T	NP_001185797.1:p.Asp331=
NM_001198869.1:c.993C>T	NP_001185798.1:p.Asp331=
NM_001198869.2:c.993C>T	NP_001185798.1:p.Asp331=
NM_005186.3:c.993C>T	NP_005177.2:p.Asp331=
NR_040008.1:n.1105C>T
NR_040008.2:n.1010C>T
ENST00000279247.10:c.993C>T	ENSP00000279247.6:p.Asp331=
ENST00000524773.5:c.993C>T	ENSP00000434176.1:p.Asp331=
ENST00000527323.5:c.993C>T	ENSP00000431984.1:p.Asp331=
ENST00000527887.1:n.233C>T
ENST00000533079.5:n.164C>T
ENST00000533129.5:c.993C>T	ENSP00000431686.1:p.Asp331=
ENST00000533820.5:c.993C>T	ENSP00000435272.1:p.Asp331=
XM_006718698.1:c.993C>T	XP_006718761.1:p.Asp331=
XM_006718698.2:c.993C>T	XP_006718761.1:p.Asp331=
XM_011545292.1:c.993C>T	XP_011543594.1:p.Asp331=