Canonical Allele Identifier: CA83635719

Gene: TOPBP1

Linked Data

• dbSNP Id: rs570542196
• gnomAD v2: 3-133319921-T-C
• gnomAD v3: 3-133601077-T-C
• gnomAD v4: 3-133601077-T-C
• MyVariant Identifiers: chr3:g.133319921T>C (hg19) ; chr3:g.133601077T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133601077T>C , CM000665.2:g.133601077T>C	GRCh38
NC_000003.11:g.133319921T>C , CM000665.1:g.133319921T>C	GRCh37
NC_000003.10:g.134802611T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260810.10:c.*173A>G MANE Select	ENSP00000260810.5:n.*173A>G
ENST00000642236.1:c.*173A>G	ENSP00000493612.1:n.*173A>G
ENST00000260810.9:c.*173A>G	ENSP00000260810.5:n.*173A>G
ENST00000503338.5:n.163-2447A>G
ENST00000503464.1:n.163-2447A>G
NM_007027.3:c.*173A>G	NP_008958.2:n.*173A>G
XM_005247076.2:c.*173A>G	XP_005247133.1:n.*173A>G
NM_001363889.1:c.*173A>G	NP_001350818.1:n.*173A>G
XM_017005636.2:c.*173A>G	XP_016861125.1:n.*173A>G
XM_017005637.2:c.*173A>G	XP_016861126.1:n.*173A>G
XR_001739988.2:n.4770A>G
NM_001363889.2:c.*173A>G	NP_001350818.1:n.*173A>G
NM_007027.4:c.*173A>G MANE Select	NP_008958.2:n.*173A>G