Canonical Allele Identifier: CA1248600889
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48687881C= , CM000664.2:g.48687881C= GRCh38
NC_000002.11:g.48915020C= , CM000664.1:g.48915020C= GRCh37
NC_000002.10:g.48768524C= NCBI36
NG_008193.1:g.72861G=
NG_033050.1:g.162957C=
NG_008193.2:g.72861G=
NG_033050.2:g.162957C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.1916G= (LHCGR) MANE Select ENSP00000294954.6:p.Ser639=
ENST00000294954.11:c.1916G= (LHCGR) ENSP00000294954.6:p.Ser639=
ENST00000401907.5:c.*228G= (LHCGR) ENSP00000385406.1:n.*228G=
ENST00000402114.6:c.3441+16201C= (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16201C=
ENST00000403273.5:c.*660G= (LHCGR) ENSP00000385847.1:n.*660G=
ENST00000405626.5:c.1835G= (LHCGR) ENSP00000386033.1:p.Ser612=
ENST00000508440.1:c.276+16201C= (GTF2A1L) ENSP00000421474.1:n.276+16201C=
ENST00000602369.3:c.*220+6343G= ENSP00000473498.1:n.*220+6343G=
NM_000233.3:c.1916G= (LHCGR) NP_000224.2:p.Ser639=
NM_001198593.1:c.3441+16201C= (STON1-GTF2A1L) NP_001185522.1:n.3441+16201C=
XM_005264309.2:c.959G= (LHCGR) XP_005264366.1:p.Ser320=
XM_006712015.2:c.986G= (LHCGR) XP_006712078.1:p.Ser329=
XM_011532828.1:c.1841G= (LHCGR) XP_011531130.1:p.Ser614=
XM_011532829.1:c.1655G= (LHCGR) XP_011531131.1:p.Ser552=
XM_011532830.1:c.1574G= (LHCGR) XP_011531132.1:p.Ser525=
XM_011532831.1:c.1280G= (LHCGR) XP_011531133.1:p.Ser427=
XM_011532832.1:c.986G= (LHCGR) XP_011531134.1:p.Ser329=
XM_011532833.1:c.986G= (LHCGR) XP_011531135.1:p.Ser329=
XM_011532834.1:c.959G= (LHCGR) XP_011531136.1:p.Ser320=
XM_005264309.3:c.959G= (LHCGR) XP_005264366.1:p.Ser320=
XM_006712015.3:c.986G= (LHCGR) XP_006712078.1:p.Ser329=
XM_011532834.2:c.959G= (LHCGR) XP_011531136.1:p.Ser320=
XM_017004089.1:c.1661G= (LHCGR) XP_016859578.1:p.Ser554=
XM_017004090.1:c.1280G= (LHCGR) XP_016859579.1:p.Ser427=
NM_000233.4:c.1916G= (LHCGR) MANE Select NP_000224.2:p.Ser639=
NM_001198593.2:c.3441+16201C= (STON1-GTF2A1L) NP_001185522.1:n.3441+16201C=