Canonical Allele Identifier: CA346745778
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688176T>A , CM000664.2:g.48688176T>A GRCh38
NC_000002.11:g.48915315T>A , CM000664.1:g.48915315T>A GRCh37
NC_000002.10:g.48768819T>A NCBI36
NG_008193.1:g.72566A>T
NG_033050.1:g.163252T>A
NG_008193.2:g.72566A>T
NG_033050.2:g.163252T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.1621A>T (LHCGR) MANE Select ENSP00000294954.6:p.Ile541Leu
ENST00000294954.11:c.1621A>T (LHCGR) ENSP00000294954.6:p.Ile541Leu
ENST00000401907.5:c.948-37A>T (LHCGR) ENSP00000385406.1:n.948-37A>T
ENST00000402114.6:c.3441+16496T>A (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16496T>A
ENST00000403273.5:c.*365A>T (LHCGR) ENSP00000385847.1:n.*365A>T
ENST00000405626.5:c.1540A>T (LHCGR) ENSP00000386033.1:p.Ile514Leu
ENST00000508440.1:c.276+16496T>A (GTF2A1L) ENSP00000421474.1:n.276+16496T>A
ENST00000602369.3:c.*220+6048A>T ENSP00000473498.1:n.*220+6048A>T
NM_000233.3:c.1621A>T (LHCGR) NP_000224.2:p.Ile541Leu
NM_001198593.1:c.3441+16496T>A (STON1-GTF2A1L) NP_001185522.1:n.3441+16496T>A
XM_005264309.2:c.664A>T (LHCGR) XP_005264366.1:p.Ile222Leu
XM_006712015.2:c.691A>T (LHCGR) XP_006712078.1:p.Ile231Leu
XM_011532828.1:c.1546A>T (LHCGR) XP_011531130.1:p.Ile516Leu
XM_011532829.1:c.1360A>T (LHCGR) XP_011531131.1:p.Ile454Leu
XM_011532830.1:c.1279A>T (LHCGR) XP_011531132.1:p.Ile427Leu
XM_011532831.1:c.985A>T (LHCGR) XP_011531133.1:p.Ile329Leu
XM_011532832.1:c.691A>T (LHCGR) XP_011531134.1:p.Ile231Leu
XM_011532833.1:c.691A>T (LHCGR) XP_011531135.1:p.Ile231Leu
XM_011532834.1:c.664A>T (LHCGR) XP_011531136.1:p.Ile222Leu
XM_005264309.3:c.664A>T (LHCGR) XP_005264366.1:p.Ile222Leu
XM_006712015.3:c.691A>T (LHCGR) XP_006712078.1:p.Ile231Leu
XM_011532834.2:c.664A>T (LHCGR) XP_011531136.1:p.Ile222Leu
XM_017004089.1:c.1366A>T (LHCGR) XP_016859578.1:p.Ile456Leu
XM_017004090.1:c.985A>T (LHCGR) XP_016859579.1:p.Ile329Leu
NM_000233.4:c.1621A>T (LHCGR) MANE Select NP_000224.2:p.Ile541Leu
NM_001198593.2:c.3441+16496T>A (STON1-GTF2A1L) NP_001185522.1:n.3441+16496T>A