Canonical Allele Identifier: CA2667757717

Gene: TOPBP1

Linked Data

• gnomAD v4: 3-133600756-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133600756A>G , CM000665.2:g.133600756A>G	GRCh38
NC_000003.11:g.133319600A>G , CM000665.1:g.133319600A>G	GRCh37
NC_000003.10:g.134802290A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000260810.10:c.*494T>C MANE Select	ENSP00000260810.5:n.*494T>C
ENST00000642236.1:c.*494T>C	ENSP00000493612.1:n.*494T>C
ENST00000260810.9:c.*494T>C	ENSP00000260810.5:n.*494T>C
ENST00000503338.5:n.163-2126T>C
ENST00000503464.1:n.163-2126T>C
NM_007027.3:c.*494T>C	NP_008958.2:n.*494T>C
XM_005247076.2:c.*494T>C	XP_005247133.1:n.*494T>C
NM_001363889.1:c.*494T>C	NP_001350818.1:n.*494T>C
XM_017005636.2:c.*494T>C	XP_016861125.1:n.*494T>C
XM_017005637.2:c.*494T>C	XP_016861126.1:n.*494T>C
XR_001739988.2:n.5091T>C
NM_001363889.2:c.*494T>C	NP_001350818.1:n.*494T>C
NM_007027.4:c.*494T>C MANE Select	NP_008958.2:n.*494T>C