Canonical Allele Identifier: CA414579305
Gene: BCORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.130013827C>T , CM000685.2:g.130013827C>T GRCh38
NC_000023.10:g.129147803C>T , CM000685.1:g.129147803C>T GRCh37
NC_000023.9:g.128975484C>T NCBI36
NG_021274.1:g.36135C>T , LRG_628:g.36135C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000540052.6:c.1055C>T MANE Select ENSP00000437775.2:p.Pro352Leu
ENST00000218147.11:c.1055C>T ENSP00000218147.7:p.Pro352Leu
ENST00000540052.5:c.1055C>T ENSP00000437775.1:p.Pro352Leu
NM_001184772.2:c.1055C>T , LRG_628t2:c.1055C>T NP_001171701.1:p.Pro352Leu
NM_021946.4:c.1055C>T , LRG_628t1:c.1055C>T NP_068765.3:p.Pro352Leu
XM_005262452.3:c.1055C>T XP_005262509.2:p.Pro352Leu
XM_005262453.3:c.1055C>T XP_005262510.2:p.Pro352Leu
XM_005262454.2:c.1055C>T XP_005262511.2:p.Pro352Leu
XM_005262455.3:c.1055C>T XP_005262512.2:p.Pro352Leu
XM_005262456.3:c.1055C>T XP_005262513.2:p.Pro352Leu
XM_006724776.2:c.1055C>T XP_006724839.1:p.Pro352Leu
XM_006724777.2:c.1055C>T XP_006724840.1:p.Pro352Leu
XM_006724779.1:c.761C>T XP_006724842.1:p.Pro254Leu
XM_011531377.1:c.1055C>T XP_011529679.1:p.Pro352Leu
XM_005262452.4:c.1055C>T XP_005262509.2:p.Pro352Leu
XM_005262453.4:c.1055C>T XP_005262510.2:p.Pro352Leu
XM_005262454.3:c.1055C>T XP_005262511.2:p.Pro352Leu
XM_005262455.4:c.1055C>T XP_005262512.2:p.Pro352Leu
XM_005262456.4:c.1055C>T XP_005262513.2:p.Pro352Leu
XM_006724776.3:c.1055C>T XP_006724839.1:p.Pro352Leu
XM_006724777.3:c.1055C>T XP_006724840.1:p.Pro352Leu
XM_006724779.2:c.761C>T XP_006724842.1:p.Pro254Leu
XM_017029721.1:c.1055C>T XP_016885210.1:p.Pro352Leu
XM_017029722.1:c.1055C>T XP_016885211.1:p.Pro352Leu
NM_001184772.3:c.1055C>T NP_001171701.1:p.Pro352Leu
NM_001379450.1:c.1055C>T NP_001366379.1:p.Pro352Leu
NM_001379451.1:c.1055C>T MANE Select NP_001366380.1:p.Pro352Leu
NM_021946.5:c.1055C>T NP_068765.3:p.Pro352Leu