Canonical Allele Identifier: CA4690799
Community Standard Title: NM_001831.4(CLU):c.999C>T (p.Val333=)
Gene: CLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27599945G>A , CM000670.2:g.27599945G>A GRCh38
NC_000008.10:g.27457462G>A , CM000670.1:g.27457462G>A GRCh37
NC_000008.9:g.27513379G>A NCBI36
NG_027845.1:g.19866C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001831.4:c.999C>T MANE Select NP_001822.3:p.Val333=
ENST00000316403.15:c.999C>T MANE Select ENSP00000315130.10:p.Val333=
NM_001831.3:c.999C>T NP_001822.3:p.Val333=
NR_038335.1:n.1320C>T
NR_038335.2:n.1254C>T
NR_045494.1:n.1179C>T
ENST00000316403.14:c.999C>T ENSP00000315130.10:p.Val333=
ENST00000405140.7:c.999C>T ENSP00000385419.3:p.Val333=
ENST00000521770.1:c.71C>T
ENST00000522098.1:c.586C>T
ENST00000522299.5:n.1067C>T
ENST00000523500.5:c.999C>T ENSP00000429620.1:p.Val333=
XM_006716284.1:c.1155C>T XP_006716347.1:p.Val385=
XM_006716284.3:c.1155C>T XP_006716347.1:p.Val385=