Canonical Allele Identifier: CA346749031
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688632A>C , CM000664.2:g.48688632A>C GRCh38
NC_000002.11:g.48915771A>C , CM000664.1:g.48915771A>C GRCh37
NC_000002.10:g.48769275A>C NCBI36
NG_008193.1:g.72110T>G
NG_033050.1:g.163708A>C
NG_008193.2:g.72110T>G
NG_033050.2:g.163708A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.1165T>G (LHCGR) MANE Select ENSP00000294954.6:p.Tyr389Asp
ENST00000294954.11:c.1165T>G (LHCGR) ENSP00000294954.6:p.Tyr389Asp
ENST00000401907.5:c.948-493T>G (LHCGR) ENSP00000385406.1:n.948-493T>G
ENST00000402114.6:c.3441+16952A>C (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16952A>C
ENST00000403273.5:c.948-49T>G (LHCGR) ENSP00000385847.1:n.948-49T>G
ENST00000405626.5:c.1084T>G (LHCGR) ENSP00000386033.1:p.Tyr362Asp
ENST00000508440.1:c.276+16952A>C (GTF2A1L) ENSP00000421474.1:n.276+16952A>C
ENST00000602369.3:c.*220+5592T>G ENSP00000473498.1:n.*220+5592T>G
NM_000233.3:c.1165T>G (LHCGR) NP_000224.2:p.Tyr389Asp
NM_001198593.1:c.3441+16952A>C (STON1-GTF2A1L) NP_001185522.1:n.3441+16952A>C
XM_005264309.2:c.208T>G (LHCGR) XP_005264366.1:p.Tyr70Asp
XM_006712015.2:c.235T>G (LHCGR) XP_006712078.1:p.Tyr79Asp
XM_011532828.1:c.1090T>G (LHCGR) XP_011531130.1:p.Tyr364Asp
XM_011532829.1:c.904T>G (LHCGR) XP_011531131.1:p.Tyr302Asp
XM_011532830.1:c.823T>G (LHCGR) XP_011531132.1:p.Tyr275Asp
XM_011532831.1:c.529T>G (LHCGR) XP_011531133.1:p.Tyr177Asp
XM_011532832.1:c.235T>G (LHCGR) XP_011531134.1:p.Tyr79Asp
XM_011532833.1:c.235T>G (LHCGR) XP_011531135.1:p.Tyr79Asp
XM_011532834.1:c.208T>G (LHCGR) XP_011531136.1:p.Tyr70Asp
XM_005264309.3:c.208T>G (LHCGR) XP_005264366.1:p.Tyr70Asp
XM_006712015.3:c.235T>G (LHCGR) XP_006712078.1:p.Tyr79Asp
XM_011532834.2:c.208T>G (LHCGR) XP_011531136.1:p.Tyr70Asp
XM_017004089.1:c.910T>G (LHCGR) XP_016859578.1:p.Tyr304Asp
XM_017004090.1:c.529T>G (LHCGR) XP_016859579.1:p.Tyr177Asp
NM_000233.4:c.1165T>G (LHCGR) MANE Select NP_000224.2:p.Tyr389Asp
NM_001198593.2:c.3441+16952A>C (STON1-GTF2A1L) NP_001185522.1:n.3441+16952A>C