Canonical Allele Identifier: CA1248600950

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688020C= , CM000664.2:g.48688020C=	GRCh38
NC_000002.11:g.48915159C= , CM000664.1:g.48915159C=	GRCh37
NC_000002.10:g.48768663C=	NCBI36
NG_008193.1:g.72722G=
NG_033050.1:g.163096C=
NG_008193.2:g.72722G=
NG_033050.2:g.163096C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1777G= (LHCGR) MANE Select	ENSP00000294954.6:p.Ala593=
ENST00000294954.11:c.1777G= (LHCGR)	ENSP00000294954.6:p.Ala593=
ENST00000401907.5:c.*89G= (LHCGR)	ENSP00000385406.1:n.*89G=
ENST00000402114.6:c.3441+16340C= (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16340C=
ENST00000403273.5:c.*521G= (LHCGR)	ENSP00000385847.1:n.*521G=
ENST00000405626.5:c.1696G= (LHCGR)	ENSP00000386033.1:p.Ala566=
ENST00000508440.1:c.276+16340C= (GTF2A1L)	ENSP00000421474.1:n.276+16340C=
ENST00000602369.3:c.*220+6204G=	ENSP00000473498.1:n.*220+6204G=
NM_000233.3:c.1777G= (LHCGR)	NP_000224.2:p.Ala593=
NM_001198593.1:c.3441+16340C= (STON1-GTF2A1L)	NP_001185522.1:n.3441+16340C=
XM_005264309.2:c.820G= (LHCGR)	XP_005264366.1:p.Ala274=
XM_006712015.2:c.847G= (LHCGR)	XP_006712078.1:p.Ala283=
XM_011532828.1:c.1702G= (LHCGR)	XP_011531130.1:p.Ala568=
XM_011532829.1:c.1516G= (LHCGR)	XP_011531131.1:p.Ala506=
XM_011532830.1:c.1435G= (LHCGR)	XP_011531132.1:p.Ala479=
XM_011532831.1:c.1141G= (LHCGR)	XP_011531133.1:p.Ala381=
XM_011532832.1:c.847G= (LHCGR)	XP_011531134.1:p.Ala283=
XM_011532833.1:c.847G= (LHCGR)	XP_011531135.1:p.Ala283=
XM_011532834.1:c.820G= (LHCGR)	XP_011531136.1:p.Ala274=
XM_005264309.3:c.820G= (LHCGR)	XP_005264366.1:p.Ala274=
XM_006712015.3:c.847G= (LHCGR)	XP_006712078.1:p.Ala283=
XM_011532834.2:c.820G= (LHCGR)	XP_011531136.1:p.Ala274=
XM_017004089.1:c.1522G= (LHCGR)	XP_016859578.1:p.Ala508=
XM_017004090.1:c.1141G= (LHCGR)	XP_016859579.1:p.Ala381=
NM_000233.4:c.1777G= (LHCGR) MANE Select	NP_000224.2:p.Ala593=
NM_001198593.2:c.3441+16340C= (STON1-GTF2A1L)	NP_001185522.1:n.3441+16340C=