Canonical Allele Identifier: CA2667757913

Gene: TOPBP1

Linked Data

• gnomAD v4: 3-133601108-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133601108C>A , CM000665.2:g.133601108C>A	GRCh38
NC_000003.11:g.133319952C>A , CM000665.1:g.133319952C>A	GRCh37
NC_000003.10:g.134802642C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260810.10:c.*142G>T MANE Select	ENSP00000260810.5:n.*142G>T
ENST00000642236.1:c.*142G>T	ENSP00000493612.1:n.*142G>T
ENST00000260810.9:c.*142G>T	ENSP00000260810.5:n.*142G>T
ENST00000503338.5:n.163-2478G>T
ENST00000503464.1:n.163-2478G>T
NM_007027.3:c.*142G>T	NP_008958.2:n.*142G>T
XM_005247076.2:c.*142G>T	XP_005247133.1:n.*142G>T
NM_001363889.1:c.*142G>T	NP_001350818.1:n.*142G>T
XM_017005636.2:c.*142G>T	XP_016861125.1:n.*142G>T
XM_017005637.2:c.*142G>T	XP_016861126.1:n.*142G>T
XR_001739988.2:n.4739G>T
NM_001363889.2:c.*142G>T	NP_001350818.1:n.*142G>T
NM_007027.4:c.*142G>T MANE Select	NP_008958.2:n.*142G>T