Canonical Allele Identifier: CA549907172
Gene: LCORL HGNC NCBI

Linked Data

dbSNP Id: rs1390776008
gnomAD v2: 4-17868072-A-G
gnomAD v3: 4-17866449-A-G
gnomAD v4: 4-17866449-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17866449A>G , CM000666.2:g.17866449A>G GRCh38
NC_000004.11:g.17868072A>G , CM000666.1:g.17868072A>G GRCh37
NC_000004.10:g.17477170A>G NCBI36
NG_015822.1:g.160412T>C
NG_015822.2:g.160412T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000635767.2:c.5602+6939T>C MANE Select ENSP00000490600.1:n.5602+6939T>C
ENST00000635767.1:c.5602+6939T>C ENSP00000490600.1:n.5602+6939T>C
ENST00000637787.1:c.5409+6939T>C
ENST00000675131.1:c.*604+19619T>C ENSP00000501990.1:n.*604+19619T>C
ENST00000675143.1:c.803+550T>C ENSP00000502692.1:n.803+550T>C
ENST00000675605.1:c.1279+550T>C
ENST00000675927.1:c.801+550T>C
ENST00000676180.1:c.1156+550T>C ENSP00000501732.1:n.1156+550T>C
ENST00000326877.8:c.776+19619T>C ENSP00000317566.3:n.776+19619T>C
ENST00000510121.5:n.224+19619T>C
ENST00000510451.5:c.*363-20548T>C ENSP00000423489.1:n.*363-20548T>C
NM_153686.7:c.776+19619T>C NP_710153.2:n.776+19619T>C
XM_011513821.1:c.*1+550T>C XP_011512123.1:n.*1+550T>C
XM_011513822.1:c.5602+6939T>C XP_011512124.1:n.5602+6939T>C
XM_011513823.1:c.*1+550T>C XP_011512125.1:n.*1+550T>C
XM_011513824.1:c.803+550T>C XP_011512126.1:n.803+550T>C
XM_011513826.1:c.683-20548T>C XP_011512128.1:n.683-20548T>C
NM_001365660.1:c.803+550T>C NP_001352589.1:n.803+550T>C
NM_001365663.1:c.683-20548T>C NP_001352592.1:n.683-20548T>C
NM_001365665.1:c.431-20548T>C NP_001352594.1:n.431-20548T>C
NM_153686.8:c.776+19619T>C NP_710153.2:n.776+19619T>C
NR_136669.1:n.727-20548T>C
NR_158563.1:n.803-20548T>C
NR_158564.1:n.1874-20548T>C
NR_158565.1:n.1967+19619T>C
NR_158566.1:n.796-20548T>C
NR_158568.1:n.820+19619T>C
XM_011513821.3:c.*1+550T>C XP_011512123.1:n.*1+550T>C
XM_011513822.3:c.5602+6939T>C XP_011512124.1:n.5602+6939T>C
XM_011513823.3:c.*1+550T>C XP_011512125.1:n.*1+550T>C
XM_017007961.2:c.*1+550T>C XP_016863450.1:n.*1+550T>C
XM_017007962.2:c.*1+550T>C XP_016863451.1:n.*1+550T>C
XM_017007963.2:c.*1+550T>C XP_016863452.1:n.*1+550T>C
XM_017007965.1:c.524+19619T>C XP_016863454.1:n.524+19619T>C
NR_136669.2:n.607-20548T>C
NR_136669.3:n.607-20548T>C
NM_001394446.1:c.5602+6939T>C MANE Select NP_001381375.1:n.5602+6939T>C