Canonical Allele Identifier: CA412736320
Gene: BCOR HGNC NCBI
COSMIC:

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.40062744A>G , CM000685.2:g.40062744A>G GRCh38
NC_000023.10:g.39921997A>G , CM000685.1:g.39921997A>G GRCh37
NC_000023.9:g.39806941A>G NCBI36
NG_008880.1:g.119586T>C , LRG_627:g.119586T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378444.9:c.4173+2T>C MANE Select ENSP00000367705.4:n.4173+2T>C
ENST00000406200.4:c.4173+2T>C ENSP00000384485.3:n.4173+2T>C
ENST00000413905.6:c.4071+2T>C ENSP00000408006.2:n.4071+2T>C
ENST00000427012.3:c.4119+2T>C ENSP00000403823.3:n.4119+2T>C
ENST00000442018.6:c.4173+2T>C ENSP00000387552.2:n.4173+2T>C
ENST00000615339.2:c.4173+2T>C ENSP00000483217.2:n.4173+2T>C
ENST00000672922.2:c.4173+2T>C ENSP00000499892.2:n.4173+2T>C
ENST00000673391.1:c.4071+2T>C ENSP00000500446.1:n.4071+2T>C
ENST00000679513.1:c.4173+2T>C ENSP00000505761.1:n.4173+2T>C
ENST00000680831.1:c.4173+2T>C ENSP00000505507.1:n.4173+2T>C
ENST00000342274.8:c.4071+2T>C ENSP00000345923.4:n.4071+2T>C
ENST00000378444.8:c.4173+2T>C ENSP00000367705.4:n.4173+2T>C
ENST00000378455.8:c.4017+2T>C ENSP00000367716.4:n.4017+2T>C
ENST00000378463.5:c.702+2T>C ENSP00000367724.1:n.702+2T>C
ENST00000397354.7:c.4071+2T>C ENSP00000380512.3:n.4071+2T>C
ENST00000413905.5:c.783+2T>C ENSP00000408006.1:n.783+2T>C
ENST00000427012.1:c.257+2T>C
ENST00000442018.5:c.192+2T>C ENSP00000387552.1:n.192+2T>C
NM_001123383.1:c.4071+2T>C , LRG_627t1:c.4071+2T>C NP_001116855.1:n.4071+2T>C
NM_001123384.1:c.4017+2T>C NP_001116856.1:n.4017+2T>C
NM_001123385.1:c.4173+2T>C , LRG_627t2:c.4173+2T>C NP_001116857.1:n.4173+2T>C
NM_017745.5:c.4071+2T>C NP_060215.4:n.4071+2T>C
XM_005272616.1:c.4173+2T>C XP_005272673.1:n.4173+2T>C
XM_005272618.2:c.4173+2T>C XP_005272675.1:n.4173+2T>C
XM_005272619.3:c.4119+2T>C XP_005272676.1:n.4119+2T>C
XM_005272620.3:c.4017+2T>C XP_005272677.1:n.4017+2T>C
XM_006724536.2:c.4173+2T>C XP_006724599.1:n.4173+2T>C
XM_011543929.1:c.4173+2T>C XP_011542231.1:n.4173+2T>C
XM_011543930.1:c.4173+2T>C XP_011542232.1:n.4173+2T>C
XM_011543931.1:c.4173+2T>C XP_011542233.1:n.4173+2T>C
XM_005272618.3:c.4173+2T>C XP_005272675.1:n.4173+2T>C
XM_005272619.4:c.4119+2T>C XP_005272676.1:n.4119+2T>C
XM_005272620.4:c.4017+2T>C XP_005272677.1:n.4017+2T>C
XM_006724536.3:c.4173+2T>C XP_006724599.1:n.4173+2T>C
XM_011543929.2:c.4173+2T>C XP_011542231.1:n.4173+2T>C
XM_011543931.2:c.4173+2T>C XP_011542233.1:n.4173+2T>C
XM_017029615.1:c.4071+2T>C XP_016885104.1:n.4071+2T>C
XM_017029616.2:c.4173+2T>C XP_016885105.1:n.4173+2T>C
NM_001123384.2:c.4017+2T>C NP_001116856.1:n.4017+2T>C
NM_001123385.2:c.4173+2T>C MANE Select NP_001116857.1:n.4173+2T>C
NM_017745.6:c.4071+2T>C NP_060215.4:n.4071+2T>C