Canonical Allele Identifier: CA1248614392
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48714036T= , CM000664.2:g.48714036T= GRCh38
NC_000002.11:g.48941175T= , CM000664.1:g.48941175T= GRCh37
NC_000002.10:g.48794679T= NCBI36
NG_008193.1:g.46706A=
NG_033050.1:g.189112T=
NG_008193.2:g.46706A=
NG_033050.2:g.189112T=

Transcript Alleles

HGVS Amino-acid change
ENST00000294954.12:c.555A= (LHCGR) MANE Select ENSP00000294954.6:p.Gly185=
ENST00000294954.11:c.555A= (LHCGR) ENSP00000294954.6:p.Gly185=
ENST00000401907.5:c.555A= (LHCGR) ENSP00000385406.1:p.Gly185=
ENST00000402114.6:c.3441+42356T= (STON1-GTF2A1L) ENSP00000385701.1:n.3441+42356T=
ENST00000403273.5:c.555A= (LHCGR) ENSP00000385847.1:p.Gly185=
ENST00000405626.5:c.555A= (LHCGR) ENSP00000386033.1:p.Gly185=
ENST00000477576.1:n.78A= (LHCGR)
ENST00000508440.1:c.277-18857T= (GTF2A1L) ENSP00000421474.1:n.277-18857T=
ENST00000602369.3:c.480A= ENSP00000473498.1:p.Gly160=
NM_000233.3:c.555A= (LHCGR) NP_000224.2:p.Gly185=
NM_001198593.1:c.3441+42356T= (STON1-GTF2A1L) NP_001185522.1:n.3441+42356T=
XM_011532828.1:c.480A= (LHCGR) XP_011531130.1:p.Gly160=
XM_011532829.1:c.480A= (LHCGR) XP_011531131.1:p.Gly160=
XM_011532830.1:c.480A= (LHCGR) XP_011531132.1:p.Gly160=
XM_011532831.1:c.-82A= (LHCGR) XP_011531133.1:n.-82A=
XM_017004089.1:c.486A= (LHCGR) XP_016859578.1:p.Gly162=
NM_000233.4:c.555A= (LHCGR) MANE Select NP_000224.2:p.Gly185=
NM_001198593.2:c.3441+42356T= (STON1-GTF2A1L) NP_001185522.1:n.3441+42356T=