Canonical Allele Identifier: CA346744177
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48687944G>C , CM000664.2:g.48687944G>C GRCh38
NC_000002.11:g.48915083G>C , CM000664.1:g.48915083G>C GRCh37
NC_000002.10:g.48768587G>C NCBI36
NG_008193.1:g.72798C>G
NG_033050.1:g.163020G>C
NG_008193.2:g.72798C>G
NG_033050.2:g.163020G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.1853C>G (LHCGR) MANE Select ENSP00000294954.6:p.Ala618Gly
ENST00000294954.11:c.1853C>G (LHCGR) ENSP00000294954.6:p.Ala618Gly
ENST00000401907.5:c.*165C>G (LHCGR) ENSP00000385406.1:n.*165C>G
ENST00000402114.6:c.3441+16264G>C (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16264G>C
ENST00000403273.5:c.*597C>G (LHCGR) ENSP00000385847.1:n.*597C>G
ENST00000405626.5:c.1772C>G (LHCGR) ENSP00000386033.1:p.Ala591Gly
ENST00000508440.1:c.276+16264G>C (GTF2A1L) ENSP00000421474.1:n.276+16264G>C
ENST00000602369.3:c.*220+6280C>G ENSP00000473498.1:n.*220+6280C>G
NM_000233.3:c.1853C>G (LHCGR) NP_000224.2:p.Ala618Gly
NM_001198593.1:c.3441+16264G>C (STON1-GTF2A1L) NP_001185522.1:n.3441+16264G>C
XM_005264309.2:c.896C>G (LHCGR) XP_005264366.1:p.Ala299Gly
XM_006712015.2:c.923C>G (LHCGR) XP_006712078.1:p.Ala308Gly
XM_011532828.1:c.1778C>G (LHCGR) XP_011531130.1:p.Ala593Gly
XM_011532829.1:c.1592C>G (LHCGR) XP_011531131.1:p.Ala531Gly
XM_011532830.1:c.1511C>G (LHCGR) XP_011531132.1:p.Ala504Gly
XM_011532831.1:c.1217C>G (LHCGR) XP_011531133.1:p.Ala406Gly
XM_011532832.1:c.923C>G (LHCGR) XP_011531134.1:p.Ala308Gly
XM_011532833.1:c.923C>G (LHCGR) XP_011531135.1:p.Ala308Gly
XM_011532834.1:c.896C>G (LHCGR) XP_011531136.1:p.Ala299Gly
XM_005264309.3:c.896C>G (LHCGR) XP_005264366.1:p.Ala299Gly
XM_006712015.3:c.923C>G (LHCGR) XP_006712078.1:p.Ala308Gly
XM_011532834.2:c.896C>G (LHCGR) XP_011531136.1:p.Ala299Gly
XM_017004089.1:c.1598C>G (LHCGR) XP_016859578.1:p.Ala533Gly
XM_017004090.1:c.1217C>G (LHCGR) XP_016859579.1:p.Ala406Gly
NM_000233.4:c.1853C>G (LHCGR) MANE Select NP_000224.2:p.Ala618Gly
NM_001198593.2:c.3441+16264G>C (STON1-GTF2A1L) NP_001185522.1:n.3441+16264G>C