Canonical Allele Identifier: CA899117012

Gene: TOPBP1

Linked Data

• dbSNP Id: rs1449318756
• gnomAD v3: 3-133600733-C-T
• gnomAD v4: 3-133600733-C-T
• MyVariant Identifiers: chr3:g.133319577C>T (hg19) ; chr3:g.133600733C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133600733C>T , CM000665.2:g.133600733C>T	GRCh38
NC_000003.11:g.133319577C>T , CM000665.1:g.133319577C>T	GRCh37
NC_000003.10:g.134802267C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000260810.10:c.*517G>A MANE Select	ENSP00000260810.5:n.*517G>A
ENST00000642236.1:c.*517G>A	ENSP00000493612.1:n.*517G>A
ENST00000260810.9:c.*517G>A	ENSP00000260810.5:n.*517G>A
ENST00000503338.5:n.163-2103G>A
ENST00000503464.1:n.163-2103G>A
NM_007027.3:c.*517G>A	NP_008958.2:n.*517G>A
XM_005247076.2:c.*517G>A	XP_005247133.1:n.*517G>A
NM_001363889.1:c.*517G>A	NP_001350818.1:n.*517G>A
XM_017005636.2:c.*517G>A	XP_016861125.1:n.*517G>A
XM_017005637.2:c.*517G>A	XP_016861126.1:n.*517G>A
XR_001739988.2:n.5114G>A
NM_001363889.2:c.*517G>A	NP_001350818.1:n.*517G>A
NM_007027.4:c.*517G>A MANE Select	NP_008958.2:n.*517G>A