Canonical Allele Identifier: CA346743101
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48687764A>C , CM000664.2:g.48687764A>C GRCh38
NC_000002.11:g.48914903A>C , CM000664.1:g.48914903A>C GRCh37
NC_000002.10:g.48768407A>C NCBI36
NG_008193.1:g.72978T>G
NG_033050.1:g.162840A>C
NG_008193.2:g.72978T>G
NG_033050.2:g.162840A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.2033T>G (LHCGR) MANE Select ENSP00000294954.6:p.Leu678Trp
ENST00000294954.11:c.2033T>G (LHCGR) ENSP00000294954.6:p.Leu678Trp
ENST00000401907.5:c.*345T>G (LHCGR) ENSP00000385406.1:n.*345T>G
ENST00000402114.6:c.3441+16084A>C (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16084A>C
ENST00000403273.5:c.*777T>G (LHCGR) ENSP00000385847.1:n.*777T>G
ENST00000405626.5:c.1952T>G (LHCGR) ENSP00000386033.1:p.Leu651Trp
ENST00000508440.1:c.276+16084A>C (GTF2A1L) ENSP00000421474.1:n.276+16084A>C
ENST00000602369.3:c.*220+6460T>G ENSP00000473498.1:n.*220+6460T>G
NM_000233.3:c.2033T>G (LHCGR) NP_000224.2:p.Leu678Trp
NM_001198593.1:c.3441+16084A>C (STON1-GTF2A1L) NP_001185522.1:n.3441+16084A>C
XM_005264309.2:c.1076T>G (LHCGR) XP_005264366.1:p.Leu359Trp
XM_006712015.2:c.1103T>G (LHCGR) XP_006712078.1:p.Leu368Trp
XM_011532828.1:c.1958T>G (LHCGR) XP_011531130.1:p.Leu653Trp
XM_011532829.1:c.1772T>G (LHCGR) XP_011531131.1:p.Leu591Trp
XM_011532830.1:c.1691T>G (LHCGR) XP_011531132.1:p.Leu564Trp
XM_011532831.1:c.1397T>G (LHCGR) XP_011531133.1:p.Leu466Trp
XM_011532832.1:c.1103T>G (LHCGR) XP_011531134.1:p.Leu368Trp
XM_011532833.1:c.1103T>G (LHCGR) XP_011531135.1:p.Leu368Trp
XM_011532834.1:c.1076T>G (LHCGR) XP_011531136.1:p.Leu359Trp
XM_005264309.3:c.1076T>G (LHCGR) XP_005264366.1:p.Leu359Trp
XM_006712015.3:c.1103T>G (LHCGR) XP_006712078.1:p.Leu368Trp
XM_011532834.2:c.1076T>G (LHCGR) XP_011531136.1:p.Leu359Trp
XM_017004089.1:c.1778T>G (LHCGR) XP_016859578.1:p.Leu593Trp
XM_017004090.1:c.1397T>G (LHCGR) XP_016859579.1:p.Leu466Trp
NM_000233.4:c.2033T>G (LHCGR) MANE Select NP_000224.2:p.Leu678Trp
NM_001198593.2:c.3441+16084A>C (STON1-GTF2A1L) NP_001185522.1:n.3441+16084A>C