Canonical Allele Identifier: CA10514608

Gene: BCORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130025302G>A , CM000685.2:g.130025302G>A	GRCh38
NC_000023.10:g.129159277G>A , CM000685.1:g.129159277G>A	GRCh37
NC_000023.9:g.128986958G>A	NCBI36
NG_021274.1:g.47609G>A , LRG_628:g.47609G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001379451.1:c.4001G>A MANE Select	NP_001366380.1:p.Arg1334Gln
ENST00000540052.6:c.4001G>A MANE Select	ENSP00000437775.2:p.Arg1334Gln
NM_001184772.2:c.4001G>A , LRG_628t2:c.4001G>A	NP_001171701.1:p.Arg1334Gln
NM_001184772.3:c.4001G>A	NP_001171701.1:p.Arg1334Gln
NM_001379450.1:c.4001G>A	NP_001366379.1:p.Arg1334Gln
NM_021946.4:c.4001G>A , LRG_628t1:c.4001G>A	NP_068765.3:p.Arg1334Gln
NM_021946.5:c.4001G>A	NP_068765.3:p.Arg1334Gln
ENST00000218147.11:c.4001G>A	ENSP00000218147.7:p.Arg1334Gln
ENST00000441294.1:c.1994+2325G>A
ENST00000456822.5:c.2801G>A	ENSP00000399483.1:p.Arg934Gln
ENST00000540052.5:c.4001G>A	ENSP00000437775.1:p.Arg1334Gln
XM_005262452.3:c.4001G>A	XP_005262509.2:p.Arg1334Gln
XM_005262452.4:c.4001G>A	XP_005262509.2:p.Arg1334Gln
XM_005262453.3:c.4001G>A	XP_005262510.2:p.Arg1334Gln
XM_005262453.4:c.4001G>A	XP_005262510.2:p.Arg1334Gln
XM_005262454.2:c.4001G>A	XP_005262511.2:p.Arg1334Gln
XM_005262454.3:c.4001G>A	XP_005262511.2:p.Arg1334Gln
XM_005262455.3:c.4001G>A	XP_005262512.2:p.Arg1334Gln
XM_005262455.4:c.4001G>A	XP_005262512.2:p.Arg1334Gln
XM_005262456.3:c.3688+2325G>A	XP_005262513.2:n.3688+2325G>A
XM_005262456.4:c.3688+2325G>A	XP_005262513.2:n.3688+2325G>A
XM_006724776.2:c.4001G>A	XP_006724839.1:p.Arg1334Gln
XM_006724776.3:c.4001G>A	XP_006724839.1:p.Arg1334Gln
XM_006724777.2:c.4001G>A	XP_006724840.1:p.Arg1334Gln
XM_006724777.3:c.4001G>A	XP_006724840.1:p.Arg1334Gln
XM_006724779.1:c.3707G>A	XP_006724842.1:p.Arg1236Gln
XM_006724779.2:c.3707G>A	XP_006724842.1:p.Arg1236Gln
XM_011531377.1:c.4001G>A	XP_011529679.1:p.Arg1334Gln
XM_017029721.1:c.4001G>A	XP_016885210.1:p.Arg1334Gln
XM_017029722.1:c.4001G>A	XP_016885211.1:p.Arg1334Gln