Canonical Allele Identifier: CA2667757861

Gene: TOPBP1

Linked Data

• gnomAD v4: 3-133601023-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133601023G>T , CM000665.2:g.133601023G>T	GRCh38
NC_000003.11:g.133319867G>T , CM000665.1:g.133319867G>T	GRCh37
NC_000003.10:g.134802557G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000260810.10:c.*227C>A MANE Select	ENSP00000260810.5:n.*227C>A
ENST00000642236.1:c.*227C>A	ENSP00000493612.1:n.*227C>A
ENST00000260810.9:c.*227C>A	ENSP00000260810.5:n.*227C>A
ENST00000503338.5:n.163-2393C>A
ENST00000503464.1:n.163-2393C>A
NM_007027.3:c.*227C>A	NP_008958.2:n.*227C>A
XM_005247076.2:c.*227C>A	XP_005247133.1:n.*227C>A
NM_001363889.1:c.*227C>A	NP_001350818.1:n.*227C>A
XM_017005636.2:c.*227C>A	XP_016861125.1:n.*227C>A
XM_017005637.2:c.*227C>A	XP_016861126.1:n.*227C>A
XR_001739988.2:n.4824C>A
NM_001363889.2:c.*227C>A	NP_001350818.1:n.*227C>A
NM_007027.4:c.*227C>A MANE Select	NP_008958.2:n.*227C>A