Canonical Allele Identifier: CA1059801865
Gene: LCORL HGNC NCBI

Linked Data

dbSNP Id: rs1738253194
gnomAD v3: 4-17943178-T-A
gnomAD v4: 4-17943178-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17943178T>A , CM000666.2:g.17943178T>A GRCh38
NC_000004.11:g.17944801T>A , CM000666.1:g.17944801T>A GRCh37
NC_000004.10:g.17553899T>A NCBI36
NG_015822.1:g.83683A>T
NG_015822.2:g.83683A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000635767.2:c.430+18725A>T MANE Select ENSP00000490600.1:n.430+18725A>T
ENST00000635767.1:c.430+18725A>T ENSP00000490600.1:n.430+18725A>T
ENST00000637787.1:c.342+18725A>T
ENST00000674942.1:c.430+18725A>T ENSP00000502833.1:n.430+18725A>T
ENST00000675131.1:c.*258+18725A>T ENSP00000501990.1:n.*258+18725A>T
ENST00000675143.1:c.430+18725A>T ENSP00000502692.1:n.430+18725A>T
ENST00000675605.1:c.428+18725A>T
ENST00000675927.1:c.428+18725A>T
ENST00000676061.1:c.477+17087A>T ENSP00000501720.1:n.477+17087A>T
ENST00000326877.8:c.430+18725A>T ENSP00000317566.3:n.430+18725A>T
ENST00000382224.5:c.178+18725A>T ENSP00000371659.1:n.178+18725A>T
ENST00000382226.5:c.430+18725A>T ENSP00000371661.5:n.430+18725A>T
ENST00000510121.5:n.130+18725A>T
ENST00000510451.5:c.*110+18725A>T ENSP00000423489.1:n.*110+18725A>T
NM_001166139.1:c.430+18725A>T NP_001159611.1:n.430+18725A>T
NM_153686.7:c.430+18725A>T NP_710153.2:n.430+18725A>T
XM_011513821.1:c.430+18725A>T XP_011512123.1:n.430+18725A>T
XM_011513822.1:c.430+18725A>T XP_011512124.1:n.430+18725A>T
XM_011513823.1:c.169+18725A>T XP_011512125.1:n.169+18725A>T
XM_011513824.1:c.430+18725A>T XP_011512126.1:n.430+18725A>T
XM_011513825.1:c.430+18725A>T XP_011512127.1:n.430+18725A>T
XM_011513826.1:c.430+18725A>T XP_011512128.1:n.430+18725A>T
NM_001166139.2:c.430+18725A>T NP_001159611.1:n.430+18725A>T
NM_001365658.1:c.-51+17087A>T NP_001352587.1:n.-51+17087A>T
NM_001365659.1:c.-51+17087A>T NP_001352588.1:n.-51+17087A>T
NM_001365660.1:c.430+18725A>T NP_001352589.1:n.430+18725A>T
NM_001365661.1:c.430+18725A>T NP_001352590.1:n.430+18725A>T
NM_001365662.1:c.430+18725A>T NP_001352591.1:n.430+18725A>T
NM_001365663.1:c.430+18725A>T NP_001352592.1:n.430+18725A>T
NM_001365665.1:c.430+18725A>T NP_001352594.1:n.430+18725A>T
NM_153686.8:c.430+18725A>T NP_710153.2:n.430+18725A>T
NR_136669.1:n.474+18725A>T
NR_158563.1:n.550+18725A>T
NR_158564.1:n.1621+18725A>T
NR_158565.1:n.1621+18725A>T
NR_158566.1:n.543+18725A>T
NR_158567.1:n.474+18725A>T
NR_158568.1:n.474+18725A>T
XM_011513821.3:c.430+18725A>T XP_011512123.1:n.430+18725A>T
XM_011513822.3:c.430+18725A>T XP_011512124.1:n.430+18725A>T
XM_011513823.3:c.169+18725A>T XP_011512125.1:n.169+18725A>T
XM_017007961.2:c.430+18725A>T XP_016863450.1:n.430+18725A>T
XM_017007962.2:c.169+18725A>T XP_016863451.1:n.169+18725A>T
XM_017007963.2:c.169+18725A>T XP_016863452.1:n.169+18725A>T
XM_017007965.1:c.430+18725A>T XP_016863454.1:n.430+18725A>T
NR_136669.2:n.354+18725A>T
NR_136669.3:n.354+18725A>T
NM_001394446.1:c.430+18725A>T MANE Select NP_001381375.1:n.430+18725A>T