Canonical Allele Identifier: CA346746875
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688338T>A , CM000664.2:g.48688338T>A GRCh38
NC_000002.11:g.48915477T>A , CM000664.1:g.48915477T>A GRCh37
NC_000002.10:g.48768981T>A NCBI36
NG_008193.1:g.72404A>T
NG_033050.1:g.163414T>A
NG_008193.2:g.72404A>T
NG_033050.2:g.163414T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000294954.12:c.1459A>T (LHCGR) MANE Select ENSP00000294954.6:p.Met487Leu
ENST00000294954.11:c.1459A>T (LHCGR) ENSP00000294954.6:p.Met487Leu
ENST00000401907.5:c.948-199A>T (LHCGR) ENSP00000385406.1:n.948-199A>T
ENST00000402114.6:c.3441+16658T>A (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16658T>A
ENST00000403273.5:c.*203A>T (LHCGR) ENSP00000385847.1:n.*203A>T
ENST00000405626.5:c.1378A>T (LHCGR) ENSP00000386033.1:p.Met460Leu
ENST00000508440.1:c.276+16658T>A (GTF2A1L) ENSP00000421474.1:n.276+16658T>A
ENST00000602369.3:c.*220+5886A>T ENSP00000473498.1:n.*220+5886A>T
NM_000233.3:c.1459A>T (LHCGR) NP_000224.2:p.Met487Leu
NM_001198593.1:c.3441+16658T>A (STON1-GTF2A1L) NP_001185522.1:n.3441+16658T>A
XM_005264309.2:c.502A>T (LHCGR) XP_005264366.1:p.Met168Leu
XM_006712015.2:c.529A>T (LHCGR) XP_006712078.1:p.Met177Leu
XM_011532828.1:c.1384A>T (LHCGR) XP_011531130.1:p.Met462Leu
XM_011532829.1:c.1198A>T (LHCGR) XP_011531131.1:p.Met400Leu
XM_011532830.1:c.1117A>T (LHCGR) XP_011531132.1:p.Met373Leu
XM_011532831.1:c.823A>T (LHCGR) XP_011531133.1:p.Met275Leu
XM_011532832.1:c.529A>T (LHCGR) XP_011531134.1:p.Met177Leu
XM_011532833.1:c.529A>T (LHCGR) XP_011531135.1:p.Met177Leu
XM_011532834.1:c.502A>T (LHCGR) XP_011531136.1:p.Met168Leu
XM_005264309.3:c.502A>T (LHCGR) XP_005264366.1:p.Met168Leu
XM_006712015.3:c.529A>T (LHCGR) XP_006712078.1:p.Met177Leu
XM_011532834.2:c.502A>T (LHCGR) XP_011531136.1:p.Met168Leu
XM_017004089.1:c.1204A>T (LHCGR) XP_016859578.1:p.Met402Leu
XM_017004090.1:c.823A>T (LHCGR) XP_016859579.1:p.Met275Leu
NM_000233.4:c.1459A>T (LHCGR) MANE Select NP_000224.2:p.Met487Leu
NM_001198593.2:c.3441+16658T>A (STON1-GTF2A1L) NP_001185522.1:n.3441+16658T>A