Canonical Allele Identifier: CA92629204
Gene: LCORL HGNC NCBI

Linked Data

dbSNP Id: rs533660279
gnomAD v2: 4-17867996-C-T
gnomAD v3: 4-17866373-C-T
gnomAD v4: 4-17866373-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17866373C>T , CM000666.2:g.17866373C>T GRCh38
NC_000004.11:g.17867996C>T , CM000666.1:g.17867996C>T GRCh37
NC_000004.10:g.17477094C>T NCBI36
NG_015822.1:g.160488G>A
NG_015822.2:g.160488G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000635767.2:c.5602+7015G>A MANE Select ENSP00000490600.1:n.5602+7015G>A
ENST00000635767.1:c.5602+7015G>A ENSP00000490600.1:n.5602+7015G>A
ENST00000637787.1:c.5409+7015G>A
ENST00000675131.1:c.*604+19695G>A ENSP00000501990.1:n.*604+19695G>A
ENST00000675143.1:c.803+626G>A ENSP00000502692.1:n.803+626G>A
ENST00000675605.1:c.1279+626G>A
ENST00000675927.1:c.801+626G>A
ENST00000676180.1:c.1156+626G>A ENSP00000501732.1:n.1156+626G>A
ENST00000326877.8:c.776+19695G>A ENSP00000317566.3:n.776+19695G>A
ENST00000510121.5:n.224+19695G>A
ENST00000510451.5:c.*363-20472G>A ENSP00000423489.1:n.*363-20472G>A
NM_153686.7:c.776+19695G>A NP_710153.2:n.776+19695G>A
XM_011513821.1:c.*1+626G>A XP_011512123.1:n.*1+626G>A
XM_011513822.1:c.5602+7015G>A XP_011512124.1:n.5602+7015G>A
XM_011513823.1:c.*1+626G>A XP_011512125.1:n.*1+626G>A
XM_011513824.1:c.803+626G>A XP_011512126.1:n.803+626G>A
XM_011513826.1:c.683-20472G>A XP_011512128.1:n.683-20472G>A
NM_001365660.1:c.803+626G>A NP_001352589.1:n.803+626G>A
NM_001365663.1:c.683-20472G>A NP_001352592.1:n.683-20472G>A
NM_001365665.1:c.431-20472G>A NP_001352594.1:n.431-20472G>A
NM_153686.8:c.776+19695G>A NP_710153.2:n.776+19695G>A
NR_136669.1:n.727-20472G>A
NR_158563.1:n.803-20472G>A
NR_158564.1:n.1874-20472G>A
NR_158565.1:n.1967+19695G>A
NR_158566.1:n.796-20472G>A
NR_158568.1:n.820+19695G>A
XM_011513821.3:c.*1+626G>A XP_011512123.1:n.*1+626G>A
XM_011513822.3:c.5602+7015G>A XP_011512124.1:n.5602+7015G>A
XM_011513823.3:c.*1+626G>A XP_011512125.1:n.*1+626G>A
XM_017007961.2:c.*1+626G>A XP_016863450.1:n.*1+626G>A
XM_017007962.2:c.*1+626G>A XP_016863451.1:n.*1+626G>A
XM_017007963.2:c.*1+626G>A XP_016863452.1:n.*1+626G>A
XM_017007965.1:c.524+19695G>A XP_016863454.1:n.524+19695G>A
NR_136669.2:n.607-20472G>A
NR_136669.3:n.607-20472G>A
NM_001394446.1:c.5602+7015G>A MANE Select NP_001381375.1:n.5602+7015G>A