Canonical Allele Identifier: CA1248601094

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688343A= , CM000664.2:g.48688343A=	GRCh38
NC_000002.11:g.48915482A= , CM000664.1:g.48915482A=	GRCh37
NC_000002.10:g.48768986A=	NCBI36
NG_008193.1:g.72399T=
NG_033050.1:g.163419A=
NG_008193.2:g.72399T=
NG_033050.2:g.163419A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1454T= (LHCGR) MANE Select	ENSP00000294954.6:p.Leu485=
ENST00000294954.11:c.1454T= (LHCGR)	ENSP00000294954.6:p.Leu485=
ENST00000401907.5:c.948-204T= (LHCGR)	ENSP00000385406.1:n.948-204T=
ENST00000402114.6:c.3441+16663A= (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16663A=
ENST00000403273.5:c.*198T= (LHCGR)	ENSP00000385847.1:n.*198T=
ENST00000405626.5:c.1373T= (LHCGR)	ENSP00000386033.1:p.Leu458=
ENST00000508440.1:c.276+16663A= (GTF2A1L)	ENSP00000421474.1:n.276+16663A=
ENST00000602369.3:c.*220+5881T=	ENSP00000473498.1:n.*220+5881T=
NM_000233.3:c.1454T= (LHCGR)	NP_000224.2:p.Leu485=
NM_001198593.1:c.3441+16663A= (STON1-GTF2A1L)	NP_001185522.1:n.3441+16663A=
XM_005264309.2:c.497T= (LHCGR)	XP_005264366.1:p.Leu166=
XM_006712015.2:c.524T= (LHCGR)	XP_006712078.1:p.Leu175=
XM_011532828.1:c.1379T= (LHCGR)	XP_011531130.1:p.Leu460=
XM_011532829.1:c.1193T= (LHCGR)	XP_011531131.1:p.Leu398=
XM_011532830.1:c.1112T= (LHCGR)	XP_011531132.1:p.Leu371=
XM_011532831.1:c.818T= (LHCGR)	XP_011531133.1:p.Leu273=
XM_011532832.1:c.524T= (LHCGR)	XP_011531134.1:p.Leu175=
XM_011532833.1:c.524T= (LHCGR)	XP_011531135.1:p.Leu175=
XM_011532834.1:c.497T= (LHCGR)	XP_011531136.1:p.Leu166=
XM_005264309.3:c.497T= (LHCGR)	XP_005264366.1:p.Leu166=
XM_006712015.3:c.524T= (LHCGR)	XP_006712078.1:p.Leu175=
XM_011532834.2:c.497T= (LHCGR)	XP_011531136.1:p.Leu166=
XM_017004089.1:c.1199T= (LHCGR)	XP_016859578.1:p.Leu400=
XM_017004090.1:c.818T= (LHCGR)	XP_016859579.1:p.Leu273=
NM_000233.4:c.1454T= (LHCGR) MANE Select	NP_000224.2:p.Leu485=
NM_001198593.2:c.3441+16663A= (STON1-GTF2A1L)	NP_001185522.1:n.3441+16663A=