Canonical Allele Identifier: CA346745938
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688198A>C , CM000664.2:g.48688198A>C GRCh38
NC_000002.11:g.48915337A>C , CM000664.1:g.48915337A>C GRCh37
NC_000002.10:g.48768841A>C NCBI36
NG_008193.1:g.72544T>G
NG_033050.1:g.163274A>C
NG_008193.2:g.72544T>G
NG_033050.2:g.163274A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.1599T>G (LHCGR) MANE Select ENSP00000294954.6:p.Ile533Met
ENST00000294954.11:c.1599T>G (LHCGR) ENSP00000294954.6:p.Ile533Met
ENST00000401907.5:c.948-59T>G (LHCGR) ENSP00000385406.1:n.948-59T>G
ENST00000402114.6:c.3441+16518A>C (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16518A>C
ENST00000403273.5:c.*343T>G (LHCGR) ENSP00000385847.1:n.*343T>G
ENST00000405626.5:c.1518T>G (LHCGR) ENSP00000386033.1:p.Ile506Met
ENST00000508440.1:c.276+16518A>C (GTF2A1L) ENSP00000421474.1:n.276+16518A>C
ENST00000602369.3:c.*220+6026T>G ENSP00000473498.1:n.*220+6026T>G
NM_000233.3:c.1599T>G (LHCGR) NP_000224.2:p.Ile533Met
NM_001198593.1:c.3441+16518A>C (STON1-GTF2A1L) NP_001185522.1:n.3441+16518A>C
XM_005264309.2:c.642T>G (LHCGR) XP_005264366.1:p.Ile214Met
XM_006712015.2:c.669T>G (LHCGR) XP_006712078.1:p.Ile223Met
XM_011532828.1:c.1524T>G (LHCGR) XP_011531130.1:p.Ile508Met
XM_011532829.1:c.1338T>G (LHCGR) XP_011531131.1:p.Ile446Met
XM_011532830.1:c.1257T>G (LHCGR) XP_011531132.1:p.Ile419Met
XM_011532831.1:c.963T>G (LHCGR) XP_011531133.1:p.Ile321Met
XM_011532832.1:c.669T>G (LHCGR) XP_011531134.1:p.Ile223Met
XM_011532833.1:c.669T>G (LHCGR) XP_011531135.1:p.Ile223Met
XM_011532834.1:c.642T>G (LHCGR) XP_011531136.1:p.Ile214Met
XM_005264309.3:c.642T>G (LHCGR) XP_005264366.1:p.Ile214Met
XM_006712015.3:c.669T>G (LHCGR) XP_006712078.1:p.Ile223Met
XM_011532834.2:c.642T>G (LHCGR) XP_011531136.1:p.Ile214Met
XM_017004089.1:c.1344T>G (LHCGR) XP_016859578.1:p.Ile448Met
XM_017004090.1:c.963T>G (LHCGR) XP_016859579.1:p.Ile321Met
NM_000233.4:c.1599T>G (LHCGR) MANE Select NP_000224.2:p.Ile533Met
NM_001198593.2:c.3441+16518A>C (STON1-GTF2A1L) NP_001185522.1:n.3441+16518A>C