Canonical Allele Identifier: CA414589355

Gene: BCORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130015014C>T , CM000685.2:g.130015014C>T	GRCh38
NC_000023.10:g.129148990C>T , CM000685.1:g.129148990C>T	GRCh37
NC_000023.9:g.128976671C>T	NCBI36
NG_021274.1:g.37322C>T , LRG_628:g.37322C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001379451.1:c.2242C>T MANE Select	NP_001366380.1:p.Gln748Ter
ENST00000540052.6:c.2242C>T MANE Select	ENSP00000437775.2:p.Gln748Ter
NM_001184772.2:c.2242C>T , LRG_628t2:c.2242C>T	NP_001171701.1:p.Gln748Ter
NM_001184772.3:c.2242C>T	NP_001171701.1:p.Gln748Ter
NM_001379450.1:c.2242C>T	NP_001366379.1:p.Gln748Ter
NM_021946.4:c.2242C>T , LRG_628t1:c.2242C>T	NP_068765.3:p.Gln748Ter
NM_021946.5:c.2242C>T	NP_068765.3:p.Gln748Ter
ENST00000218147.11:c.2242C>T	ENSP00000218147.7:p.Gln748Ter
ENST00000441294.1:c.548C>T
ENST00000456822.5:c.1042C>T	ENSP00000399483.1:p.Gln348Ter
ENST00000540052.5:c.2242C>T	ENSP00000437775.1:p.Gln748Ter
XM_005262452.3:c.2242C>T	XP_005262509.2:p.Gln748Ter
XM_005262452.4:c.2242C>T	XP_005262509.2:p.Gln748Ter
XM_005262453.3:c.2242C>T	XP_005262510.2:p.Gln748Ter
XM_005262453.4:c.2242C>T	XP_005262510.2:p.Gln748Ter
XM_005262454.2:c.2242C>T	XP_005262511.2:p.Gln748Ter
XM_005262454.3:c.2242C>T	XP_005262511.2:p.Gln748Ter
XM_005262455.3:c.2242C>T	XP_005262512.2:p.Gln748Ter
XM_005262455.4:c.2242C>T	XP_005262512.2:p.Gln748Ter
XM_005262456.3:c.2242C>T	XP_005262513.2:p.Gln748Ter
XM_005262456.4:c.2242C>T	XP_005262513.2:p.Gln748Ter
XM_006724776.2:c.2242C>T	XP_006724839.1:p.Gln748Ter
XM_006724776.3:c.2242C>T	XP_006724839.1:p.Gln748Ter
XM_006724777.2:c.2242C>T	XP_006724840.1:p.Gln748Ter
XM_006724777.3:c.2242C>T	XP_006724840.1:p.Gln748Ter
XM_006724779.1:c.1948C>T	XP_006724842.1:p.Gln650Ter
XM_006724779.2:c.1948C>T	XP_006724842.1:p.Gln650Ter
XM_011531377.1:c.2242C>T	XP_011529679.1:p.Gln748Ter
XM_017029721.1:c.2242C>T	XP_016885210.1:p.Gln748Ter
XM_017029722.1:c.2242C>T	XP_016885211.1:p.Gln748Ter