Canonical Allele Identifier: CA1248600928

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687974A= , CM000664.2:g.48687974A=	GRCh38
NC_000002.11:g.48915113A= , CM000664.1:g.48915113A=	GRCh37
NC_000002.10:g.48768617A=	NCBI36
NG_008193.1:g.72768T=
NG_033050.1:g.163050A=
NG_008193.2:g.72768T=
NG_033050.2:g.163050A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.1823T= (LHCGR) MANE Select	ENSP00000294954.6:p.Leu608=
ENST00000294954.11:c.1823T= (LHCGR)	ENSP00000294954.6:p.Leu608=
ENST00000401907.5:c.*135T= (LHCGR)	ENSP00000385406.1:n.*135T=
ENST00000402114.6:c.3441+16294A= (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16294A=
ENST00000403273.5:c.*567T= (LHCGR)	ENSP00000385847.1:n.*567T=
ENST00000405626.5:c.1742T= (LHCGR)	ENSP00000386033.1:p.Leu581=
ENST00000508440.1:c.276+16294A= (GTF2A1L)	ENSP00000421474.1:n.276+16294A=
ENST00000602369.3:c.*220+6250T=	ENSP00000473498.1:n.*220+6250T=
NM_000233.3:c.1823T= (LHCGR)	NP_000224.2:p.Leu608=
NM_001198593.1:c.3441+16294A= (STON1-GTF2A1L)	NP_001185522.1:n.3441+16294A=
XM_005264309.2:c.866T= (LHCGR)	XP_005264366.1:p.Leu289=
XM_006712015.2:c.893T= (LHCGR)	XP_006712078.1:p.Leu298=
XM_011532828.1:c.1748T= (LHCGR)	XP_011531130.1:p.Leu583=
XM_011532829.1:c.1562T= (LHCGR)	XP_011531131.1:p.Leu521=
XM_011532830.1:c.1481T= (LHCGR)	XP_011531132.1:p.Leu494=
XM_011532831.1:c.1187T= (LHCGR)	XP_011531133.1:p.Leu396=
XM_011532832.1:c.893T= (LHCGR)	XP_011531134.1:p.Leu298=
XM_011532833.1:c.893T= (LHCGR)	XP_011531135.1:p.Leu298=
XM_011532834.1:c.866T= (LHCGR)	XP_011531136.1:p.Leu289=
XM_005264309.3:c.866T= (LHCGR)	XP_005264366.1:p.Leu289=
XM_006712015.3:c.893T= (LHCGR)	XP_006712078.1:p.Leu298=
XM_011532834.2:c.866T= (LHCGR)	XP_011531136.1:p.Leu289=
XM_017004089.1:c.1568T= (LHCGR)	XP_016859578.1:p.Leu523=
XM_017004090.1:c.1187T= (LHCGR)	XP_016859579.1:p.Leu396=
NM_000233.4:c.1823T= (LHCGR) MANE Select	NP_000224.2:p.Leu608=
NM_001198593.2:c.3441+16294A= (STON1-GTF2A1L)	NP_001185522.1:n.3441+16294A=