Canonical Allele Identifier: CA83635737

Gene: TOPBP1

Linked Data

• dbSNP Id: rs546554750
• gnomAD v3: 3-133601131-T-G
• gnomAD v4: 3-133601131-T-G
• MyVariant Identifiers: chr3:g.133319975T>G (hg19) ; chr3:g.133601131T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133601131T>G , CM000665.2:g.133601131T>G	GRCh38
NC_000003.11:g.133319975T>G , CM000665.1:g.133319975T>G	GRCh37
NC_000003.10:g.134802665T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260810.10:c.*119A>C MANE Select	ENSP00000260810.5:n.*119A>C
ENST00000642236.1:c.*119A>C	ENSP00000493612.1:n.*119A>C
ENST00000260810.9:c.*119A>C	ENSP00000260810.5:n.*119A>C
ENST00000503338.5:n.163-2501A>C
ENST00000503464.1:n.163-2501A>C
NM_007027.3:c.*119A>C	NP_008958.2:n.*119A>C
XM_005247076.2:c.*119A>C	XP_005247133.1:n.*119A>C
NM_001363889.1:c.*119A>C	NP_001350818.1:n.*119A>C
XM_017005636.2:c.*119A>C	XP_016861125.1:n.*119A>C
XM_017005637.2:c.*119A>C	XP_016861126.1:n.*119A>C
XR_001739988.2:n.4716A>C
NM_001363889.2:c.*119A>C	NP_001350818.1:n.*119A>C
NM_007027.4:c.*119A>C MANE Select	NP_008958.2:n.*119A>C