Canonical Allele Identifier: CA207143

Gene: BCOR

Linked Data

• ClinVar Variation Id: 210518
• ClinVar RCV Id: RCV000193574 ; RCV000625946 ; RCV000640962 ; RCV001726037
• dbSNP Id: rs144722432
• ExAC: X:39932564 C / T
• gnomAD v2: X-39932564-C-T
• gnomAD v3: X-40073311-C-T
• gnomAD v4: X-40073311-C-T
• MyVariant Identifiers: chrX:g.39932564C>T (hg19) ; chrX:g.40073311C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.40073311C>T , CM000685.2:g.40073311C>T	GRCh38
NC_000023.10:g.39932564C>T , CM000685.1:g.39932564C>T	GRCh37
NC_000023.9:g.39817508C>T	NCBI36
NG_008880.1:g.109019G>A , LRG_627:g.109019G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378444.9:c.2035G>A MANE Select	ENSP00000367705.4:p.Val679Ile
ENST00000406200.4:c.2035G>A	ENSP00000384485.3:p.Val679Ile
ENST00000413905.6:c.2035G>A	ENSP00000408006.2:p.Val679Ile
ENST00000427012.3:c.2035G>A	ENSP00000403823.3:p.Val679Ile
ENST00000442018.6:c.2035G>A	ENSP00000387552.2:p.Val679Ile
ENST00000615339.2:c.2035G>A	ENSP00000483217.2:p.Val679Ile
ENST00000672922.2:c.2035G>A	ENSP00000499892.2:p.Val679Ile
ENST00000673391.1:c.2035G>A	ENSP00000500446.1:p.Val679Ile
ENST00000679513.1:c.2035G>A	ENSP00000505761.1:p.Val679Ile
ENST00000680831.1:c.2035G>A	ENSP00000505507.1:p.Val679Ile
ENST00000342274.8:c.2035G>A	ENSP00000345923.4:p.Val679Ile
ENST00000378444.8:c.2035G>A	ENSP00000367705.4:p.Val679Ile
ENST00000378455.8:c.2035G>A	ENSP00000367716.4:p.Val679Ile
ENST00000397354.7:c.2035G>A	ENSP00000380512.3:p.Val679Ile
ENST00000406200.2:c.2035G>A	ENSP00000384485.2:p.Val679Ile
ENST00000490976.5:n.2075G>A
ENST00000615339.1:c.256G>A	ENSP00000483217.1:p.Val86Ile
NM_001123383.1:c.2035G>A , LRG_627t1:c.2035G>A	NP_001116855.1:p.Val679Ile
NM_001123384.1:c.2035G>A	NP_001116856.1:p.Val679Ile
NM_001123385.1:c.2035G>A , LRG_627t2:c.2035G>A	NP_001116857.1:p.Val679Ile
NM_017745.5:c.2035G>A	NP_060215.4:p.Val679Ile
XM_005272616.1:c.2035G>A	XP_005272673.1:p.Val679Ile
XM_005272618.2:c.2035G>A	XP_005272675.1:p.Val679Ile
XM_005272619.3:c.2035G>A	XP_005272676.1:p.Val679Ile
XM_005272620.3:c.2035G>A	XP_005272677.1:p.Val679Ile
XM_006724536.2:c.2035G>A	XP_006724599.1:p.Val679Ile
XM_011543929.1:c.2035G>A	XP_011542231.1:p.Val679Ile
XM_011543930.1:c.2035G>A	XP_011542232.1:p.Val679Ile
XM_011543931.1:c.2035G>A	XP_011542233.1:p.Val679Ile
XM_005272618.3:c.2035G>A	XP_005272675.1:p.Val679Ile
XM_005272619.4:c.2035G>A	XP_005272676.1:p.Val679Ile
XM_005272620.4:c.2035G>A	XP_005272677.1:p.Val679Ile
XM_006724536.3:c.2035G>A	XP_006724599.1:p.Val679Ile
XM_011543929.2:c.2035G>A	XP_011542231.1:p.Val679Ile
XM_011543931.2:c.2035G>A	XP_011542233.1:p.Val679Ile
XM_017029615.1:c.2035G>A	XP_016885104.1:p.Val679Ile
XM_017029616.2:c.2035G>A	XP_016885105.1:p.Val679Ile
NM_001123384.2:c.2035G>A	NP_001116856.1:p.Val679Ile
NM_001123385.2:c.2035G>A MANE Select	NP_001116857.1:p.Val679Ile
NM_017745.6:c.2035G>A	NP_060215.4:p.Val679Ile