Canonical Allele Identifier: CA1248600765
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48687639G= , CM000664.2:g.48687639G= GRCh38
NC_000002.11:g.48914778G= , CM000664.1:g.48914778G= GRCh37
NC_000002.10:g.48768282G= NCBI36
NG_008193.1:g.73103C=
NG_033050.1:g.162715G=
NG_008193.2:g.73103C=
NG_033050.2:g.162715G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.*58C= (LHCGR) MANE Select ENSP00000294954.6:n.*58C=
ENST00000294954.11:c.*58C= (LHCGR) ENSP00000294954.6:n.*58C=
ENST00000402114.6:c.3441+15959G= (STON1-GTF2A1L) ENSP00000385701.1:n.3441+15959G=
ENST00000508440.1:c.276+15959G= (GTF2A1L) ENSP00000421474.1:n.276+15959G=
ENST00000602369.3:c.*220+6585C= ENSP00000473498.1:n.*220+6585C=
NM_000233.3:c.*58C= (LHCGR) NP_000224.2:n.*58C=
NM_001198593.1:c.3441+15959G= (STON1-GTF2A1L) NP_001185522.1:n.3441+15959G=
XM_005264309.2:c.*58C= (LHCGR) XP_005264366.1:n.*58C=
XM_006712015.2:c.*58C= (LHCGR) XP_006712078.1:n.*58C=
XM_011532828.1:c.*58C= (LHCGR) XP_011531130.1:n.*58C=
XM_011532829.1:c.*58C= (LHCGR) XP_011531131.1:n.*58C=
XM_011532830.1:c.*58C= (LHCGR) XP_011531132.1:n.*58C=
XM_011532831.1:c.*58C= (LHCGR) XP_011531133.1:n.*58C=
XM_011532832.1:c.*58C= (LHCGR) XP_011531134.1:n.*58C=
XM_011532833.1:c.*58C= (LHCGR) XP_011531135.1:n.*58C=
XM_011532834.1:c.*58C= (LHCGR) XP_011531136.1:n.*58C=
XM_005264309.3:c.*58C= (LHCGR) XP_005264366.1:n.*58C=
XM_006712015.3:c.*58C= (LHCGR) XP_006712078.1:n.*58C=
XM_011532834.2:c.*58C= (LHCGR) XP_011531136.1:n.*58C=
XM_017004089.1:c.*58C= (LHCGR) XP_016859578.1:n.*58C=
XM_017004090.1:c.*58C= (LHCGR) XP_016859579.1:n.*58C=
NM_000233.4:c.*58C= (LHCGR) MANE Select NP_000224.2:n.*58C=
NM_001198593.2:c.3441+15959G= (STON1-GTF2A1L) NP_001185522.1:n.3441+15959G=