Canonical Allele Identifier: CA1403050141
Gene: TOPBP1 HGNC NCBI

Linked Data

dbSNP Id: rs1934276065

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133601088A>C , CM000665.2:g.133601088A>C GRCh38
NC_000003.11:g.133319932A>C , CM000665.1:g.133319932A>C GRCh37
NC_000003.10:g.134802622A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260810.10:c.*162T>G MANE Select ENSP00000260810.5:n.*162T>G
ENST00000642236.1:c.*162T>G ENSP00000493612.1:n.*162T>G
ENST00000260810.9:c.*162T>G ENSP00000260810.5:n.*162T>G
ENST00000503338.5:n.163-2458T>G
ENST00000503464.1:n.163-2458T>G
NM_007027.3:c.*162T>G NP_008958.2:n.*162T>G
XM_005247076.2:c.*162T>G XP_005247133.1:n.*162T>G
NM_001363889.1:c.*162T>G NP_001350818.1:n.*162T>G
XM_017005636.2:c.*162T>G XP_016861125.1:n.*162T>G
XM_017005637.2:c.*162T>G XP_016861126.1:n.*162T>G
XR_001739988.2:n.4759T>G
NM_001363889.2:c.*162T>G NP_001350818.1:n.*162T>G
NM_007027.4:c.*162T>G MANE Select NP_008958.2:n.*162T>G