Canonical Allele Identifier: CA1248600946

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688011C= , CM000664.2:g.48688011C=	GRCh38
NC_000002.11:g.48915150C= , CM000664.1:g.48915150C=	GRCh37
NC_000002.10:g.48768654C=	NCBI36
NG_008193.1:g.72731G=
NG_033050.1:g.163087C=
NG_008193.2:g.72731G=
NG_033050.2:g.163087C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1786G= (LHCGR) MANE Select	ENSP00000294954.6:p.Val596=
ENST00000294954.11:c.1786G= (LHCGR)	ENSP00000294954.6:p.Val596=
ENST00000401907.5:c.*98G= (LHCGR)	ENSP00000385406.1:n.*98G=
ENST00000402114.6:c.3441+16331C= (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16331C=
ENST00000403273.5:c.*530G= (LHCGR)	ENSP00000385847.1:n.*530G=
ENST00000405626.5:c.1705G= (LHCGR)	ENSP00000386033.1:p.Val569=
ENST00000508440.1:c.276+16331C= (GTF2A1L)	ENSP00000421474.1:n.276+16331C=
ENST00000602369.3:c.*220+6213G=	ENSP00000473498.1:n.*220+6213G=
NM_000233.3:c.1786G= (LHCGR)	NP_000224.2:p.Val596=
NM_001198593.1:c.3441+16331C= (STON1-GTF2A1L)	NP_001185522.1:n.3441+16331C=
XM_005264309.2:c.829G= (LHCGR)	XP_005264366.1:p.Val277=
XM_006712015.2:c.856G= (LHCGR)	XP_006712078.1:p.Val286=
XM_011532828.1:c.1711G= (LHCGR)	XP_011531130.1:p.Val571=
XM_011532829.1:c.1525G= (LHCGR)	XP_011531131.1:p.Val509=
XM_011532830.1:c.1444G= (LHCGR)	XP_011531132.1:p.Val482=
XM_011532831.1:c.1150G= (LHCGR)	XP_011531133.1:p.Val384=
XM_011532832.1:c.856G= (LHCGR)	XP_011531134.1:p.Val286=
XM_011532833.1:c.856G= (LHCGR)	XP_011531135.1:p.Val286=
XM_011532834.1:c.829G= (LHCGR)	XP_011531136.1:p.Val277=
XM_005264309.3:c.829G= (LHCGR)	XP_005264366.1:p.Val277=
XM_006712015.3:c.856G= (LHCGR)	XP_006712078.1:p.Val286=
XM_011532834.2:c.829G= (LHCGR)	XP_011531136.1:p.Val277=
XM_017004089.1:c.1531G= (LHCGR)	XP_016859578.1:p.Val511=
XM_017004090.1:c.1150G= (LHCGR)	XP_016859579.1:p.Val384=
NM_000233.4:c.1786G= (LHCGR) MANE Select	NP_000224.2:p.Val596=
NM_001198593.2:c.3441+16331C= (STON1-GTF2A1L)	NP_001185522.1:n.3441+16331C=