Canonical Allele Identifier: CA346742908
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48687729G>T , CM000664.2:g.48687729G>T GRCh38
NC_000002.11:g.48914868G>T , CM000664.1:g.48914868G>T GRCh37
NC_000002.10:g.48768372G>T NCBI36
NG_008193.1:g.73013C>A
NG_033050.1:g.162805G>T
NG_008193.2:g.73013C>A
NG_033050.2:g.162805G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.2068C>A (LHCGR) MANE Select ENSP00000294954.6:p.Leu690Ile
ENST00000294954.11:c.2068C>A (LHCGR) ENSP00000294954.6:p.Leu690Ile
ENST00000401907.5:c.*380C>A (LHCGR) ENSP00000385406.1:n.*380C>A
ENST00000402114.6:c.3441+16049G>T (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16049G>T
ENST00000403273.5:c.*812C>A (LHCGR) ENSP00000385847.1:n.*812C>A
ENST00000405626.5:c.1987C>A (LHCGR) ENSP00000386033.1:p.Leu663Ile
ENST00000508440.1:c.276+16049G>T (GTF2A1L) ENSP00000421474.1:n.276+16049G>T
ENST00000602369.3:c.*220+6495C>A ENSP00000473498.1:n.*220+6495C>A
NM_000233.3:c.2068C>A (LHCGR) NP_000224.2:p.Leu690Ile
NM_001198593.1:c.3441+16049G>T (STON1-GTF2A1L) NP_001185522.1:n.3441+16049G>T
XM_005264309.2:c.1111C>A (LHCGR) XP_005264366.1:p.Leu371Ile
XM_006712015.2:c.1138C>A (LHCGR) XP_006712078.1:p.Leu380Ile
XM_011532828.1:c.1993C>A (LHCGR) XP_011531130.1:p.Leu665Ile
XM_011532829.1:c.1807C>A (LHCGR) XP_011531131.1:p.Leu603Ile
XM_011532830.1:c.1726C>A (LHCGR) XP_011531132.1:p.Leu576Ile
XM_011532831.1:c.1432C>A (LHCGR) XP_011531133.1:p.Leu478Ile
XM_011532832.1:c.1138C>A (LHCGR) XP_011531134.1:p.Leu380Ile
XM_011532833.1:c.1138C>A (LHCGR) XP_011531135.1:p.Leu380Ile
XM_011532834.1:c.1111C>A (LHCGR) XP_011531136.1:p.Leu371Ile
XM_005264309.3:c.1111C>A (LHCGR) XP_005264366.1:p.Leu371Ile
XM_006712015.3:c.1138C>A (LHCGR) XP_006712078.1:p.Leu380Ile
XM_011532834.2:c.1111C>A (LHCGR) XP_011531136.1:p.Leu371Ile
XM_017004089.1:c.1813C>A (LHCGR) XP_016859578.1:p.Leu605Ile
XM_017004090.1:c.1432C>A (LHCGR) XP_016859579.1:p.Leu478Ile
NM_000233.4:c.2068C>A (LHCGR) MANE Select NP_000224.2:p.Leu690Ile
NM_001198593.2:c.3441+16049G>T (STON1-GTF2A1L) NP_001185522.1:n.3441+16049G>T