Canonical Allele Identifier: CA2667757873

Gene: TOPBP1

Linked Data

• gnomAD v4: 3-133601048-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133601048G>A , CM000665.2:g.133601048G>A	GRCh38
NC_000003.11:g.133319892G>A , CM000665.1:g.133319892G>A	GRCh37
NC_000003.10:g.134802582G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260810.10:c.*202C>T MANE Select	ENSP00000260810.5:n.*202C>T
ENST00000642236.1:c.*202C>T	ENSP00000493612.1:n.*202C>T
ENST00000260810.9:c.*202C>T	ENSP00000260810.5:n.*202C>T
ENST00000503338.5:n.163-2418C>T
ENST00000503464.1:n.163-2418C>T
NM_007027.3:c.*202C>T	NP_008958.2:n.*202C>T
XM_005247076.2:c.*202C>T	XP_005247133.1:n.*202C>T
NM_001363889.1:c.*202C>T	NP_001350818.1:n.*202C>T
XM_017005636.2:c.*202C>T	XP_016861125.1:n.*202C>T
XM_017005637.2:c.*202C>T	XP_016861126.1:n.*202C>T
XR_001739988.2:n.4799C>T
NM_001363889.2:c.*202C>T	NP_001350818.1:n.*202C>T
NM_007027.4:c.*202C>T MANE Select	NP_008958.2:n.*202C>T