Canonical Allele Identifier: CA549907173
Gene: LCORL HGNC NCBI

Linked Data

dbSNP Id: rs1324637303
gnomAD v2: 4-17868086-G-A
gnomAD v3: 4-17866463-G-A
gnomAD v4: 4-17866463-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17866463G>A , CM000666.2:g.17866463G>A GRCh38
NC_000004.11:g.17868086G>A , CM000666.1:g.17868086G>A GRCh37
NC_000004.10:g.17477184G>A NCBI36
NG_015822.1:g.160398C>T
NG_015822.2:g.160398C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000635767.2:c.5602+6925C>T MANE Select ENSP00000490600.1:n.5602+6925C>T
ENST00000635767.1:c.5602+6925C>T ENSP00000490600.1:n.5602+6925C>T
ENST00000637787.1:c.5409+6925C>T
ENST00000675131.1:c.*604+19605C>T ENSP00000501990.1:n.*604+19605C>T
ENST00000675143.1:c.803+536C>T ENSP00000502692.1:n.803+536C>T
ENST00000675605.1:c.1279+536C>T
ENST00000675927.1:c.801+536C>T
ENST00000676180.1:c.1156+536C>T ENSP00000501732.1:n.1156+536C>T
ENST00000326877.8:c.776+19605C>T ENSP00000317566.3:n.776+19605C>T
ENST00000510121.5:n.224+19605C>T
ENST00000510451.5:c.*363-20562C>T ENSP00000423489.1:n.*363-20562C>T
NM_153686.7:c.776+19605C>T NP_710153.2:n.776+19605C>T
XM_011513821.1:c.*1+536C>T XP_011512123.1:n.*1+536C>T
XM_011513822.1:c.5602+6925C>T XP_011512124.1:n.5602+6925C>T
XM_011513823.1:c.*1+536C>T XP_011512125.1:n.*1+536C>T
XM_011513824.1:c.803+536C>T XP_011512126.1:n.803+536C>T
XM_011513826.1:c.683-20562C>T XP_011512128.1:n.683-20562C>T
NM_001365660.1:c.803+536C>T NP_001352589.1:n.803+536C>T
NM_001365663.1:c.683-20562C>T NP_001352592.1:n.683-20562C>T
NM_001365665.1:c.431-20562C>T NP_001352594.1:n.431-20562C>T
NM_153686.8:c.776+19605C>T NP_710153.2:n.776+19605C>T
NR_136669.1:n.727-20562C>T
NR_158563.1:n.803-20562C>T
NR_158564.1:n.1874-20562C>T
NR_158565.1:n.1967+19605C>T
NR_158566.1:n.796-20562C>T
NR_158568.1:n.820+19605C>T
XM_011513821.3:c.*1+536C>T XP_011512123.1:n.*1+536C>T
XM_011513822.3:c.5602+6925C>T XP_011512124.1:n.5602+6925C>T
XM_011513823.3:c.*1+536C>T XP_011512125.1:n.*1+536C>T
XM_017007961.2:c.*1+536C>T XP_016863450.1:n.*1+536C>T
XM_017007962.2:c.*1+536C>T XP_016863451.1:n.*1+536C>T
XM_017007963.2:c.*1+536C>T XP_016863452.1:n.*1+536C>T
XM_017007965.1:c.524+19605C>T XP_016863454.1:n.524+19605C>T
NR_136669.2:n.607-20562C>T
NR_136669.3:n.607-20562C>T
NM_001394446.1:c.5602+6925C>T MANE Select NP_001381375.1:n.5602+6925C>T