Canonical Allele Identifier: CA346746940
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688357T>A , CM000664.2:g.48688357T>A GRCh38
NC_000002.11:g.48915496T>A , CM000664.1:g.48915496T>A GRCh37
NC_000002.10:g.48769000T>A NCBI36
NG_008193.1:g.72385A>T
NG_033050.1:g.163433T>A
NG_008193.2:g.72385A>T
NG_033050.2:g.163433T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.1440A>T (LHCGR) MANE Select ENSP00000294954.6:p.Leu480Phe
ENST00000294954.11:c.1440A>T (LHCGR) ENSP00000294954.6:p.Leu480Phe
ENST00000401907.5:c.948-218A>T (LHCGR) ENSP00000385406.1:n.948-218A>T
ENST00000402114.6:c.3441+16677T>A (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16677T>A
ENST00000403273.5:c.*184A>T (LHCGR) ENSP00000385847.1:n.*184A>T
ENST00000405626.5:c.1359A>T (LHCGR) ENSP00000386033.1:p.Leu453Phe
ENST00000508440.1:c.276+16677T>A (GTF2A1L) ENSP00000421474.1:n.276+16677T>A
ENST00000602369.3:c.*220+5867A>T ENSP00000473498.1:n.*220+5867A>T
NM_000233.3:c.1440A>T (LHCGR) NP_000224.2:p.Leu480Phe
NM_001198593.1:c.3441+16677T>A (STON1-GTF2A1L) NP_001185522.1:n.3441+16677T>A
XM_005264309.2:c.483A>T (LHCGR) XP_005264366.1:p.Leu161Phe
XM_006712015.2:c.510A>T (LHCGR) XP_006712078.1:p.Leu170Phe
XM_011532828.1:c.1365A>T (LHCGR) XP_011531130.1:p.Leu455Phe
XM_011532829.1:c.1179A>T (LHCGR) XP_011531131.1:p.Leu393Phe
XM_011532830.1:c.1098A>T (LHCGR) XP_011531132.1:p.Leu366Phe
XM_011532831.1:c.804A>T (LHCGR) XP_011531133.1:p.Leu268Phe
XM_011532832.1:c.510A>T (LHCGR) XP_011531134.1:p.Leu170Phe
XM_011532833.1:c.510A>T (LHCGR) XP_011531135.1:p.Leu170Phe
XM_011532834.1:c.483A>T (LHCGR) XP_011531136.1:p.Leu161Phe
XM_005264309.3:c.483A>T (LHCGR) XP_005264366.1:p.Leu161Phe
XM_006712015.3:c.510A>T (LHCGR) XP_006712078.1:p.Leu170Phe
XM_011532834.2:c.483A>T (LHCGR) XP_011531136.1:p.Leu161Phe
XM_017004089.1:c.1185A>T (LHCGR) XP_016859578.1:p.Leu395Phe
XM_017004090.1:c.804A>T (LHCGR) XP_016859579.1:p.Leu268Phe
NM_000233.4:c.1440A>T (LHCGR) MANE Select NP_000224.2:p.Leu480Phe
NM_001198593.2:c.3441+16677T>A (STON1-GTF2A1L) NP_001185522.1:n.3441+16677T>A