Canonical Allele Identifier: CA1248600940

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688000G= , CM000664.2:g.48688000G=	GRCh38
NC_000002.11:g.48915139G= , CM000664.1:g.48915139G=	GRCh37
NC_000002.10:g.48768643G=	NCBI36
NG_008193.1:g.72742C=
NG_033050.1:g.163076G=
NG_008193.2:g.72742C=
NG_033050.2:g.163076G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1797C= (LHCGR) MANE Select	ENSP00000294954.6:p.Ile599=
ENST00000294954.11:c.1797C= (LHCGR)	ENSP00000294954.6:p.Ile599=
ENST00000401907.5:c.*109C= (LHCGR)	ENSP00000385406.1:n.*109C=
ENST00000402114.6:c.3441+16320G= (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16320G=
ENST00000403273.5:c.*541C= (LHCGR)	ENSP00000385847.1:n.*541C=
ENST00000405626.5:c.1716C= (LHCGR)	ENSP00000386033.1:p.Ile572=
ENST00000508440.1:c.276+16320G= (GTF2A1L)	ENSP00000421474.1:n.276+16320G=
ENST00000602369.3:c.*220+6224C=	ENSP00000473498.1:n.*220+6224C=
NM_000233.3:c.1797C= (LHCGR)	NP_000224.2:p.Ile599=
NM_001198593.1:c.3441+16320G= (STON1-GTF2A1L)	NP_001185522.1:n.3441+16320G=
XM_005264309.2:c.840C= (LHCGR)	XP_005264366.1:p.Ile280=
XM_006712015.2:c.867C= (LHCGR)	XP_006712078.1:p.Ile289=
XM_011532828.1:c.1722C= (LHCGR)	XP_011531130.1:p.Ile574=
XM_011532829.1:c.1536C= (LHCGR)	XP_011531131.1:p.Ile512=
XM_011532830.1:c.1455C= (LHCGR)	XP_011531132.1:p.Ile485=
XM_011532831.1:c.1161C= (LHCGR)	XP_011531133.1:p.Ile387=
XM_011532832.1:c.867C= (LHCGR)	XP_011531134.1:p.Ile289=
XM_011532833.1:c.867C= (LHCGR)	XP_011531135.1:p.Ile289=
XM_011532834.1:c.840C= (LHCGR)	XP_011531136.1:p.Ile280=
XM_005264309.3:c.840C= (LHCGR)	XP_005264366.1:p.Ile280=
XM_006712015.3:c.867C= (LHCGR)	XP_006712078.1:p.Ile289=
XM_011532834.2:c.840C= (LHCGR)	XP_011531136.1:p.Ile280=
XM_017004089.1:c.1542C= (LHCGR)	XP_016859578.1:p.Ile514=
XM_017004090.1:c.1161C= (LHCGR)	XP_016859579.1:p.Ile387=
NM_000233.4:c.1797C= (LHCGR) MANE Select	NP_000224.2:p.Ile599=
NM_001198593.2:c.3441+16320G= (STON1-GTF2A1L)	NP_001185522.1:n.3441+16320G=