Canonical Allele Identifier: CA1248601218

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688650C= , CM000664.2:g.48688650C=	GRCh38
NC_000002.11:g.48915789C= , CM000664.1:g.48915789C=	GRCh37
NC_000002.10:g.48769293C=	NCBI36
NG_008193.1:g.72092G=
NG_033050.1:g.163726C=
NG_008193.2:g.72092G=
NG_033050.2:g.163726C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.1147G= (LHCGR) MANE Select	ENSP00000294954.6:p.Val383=
ENST00000294954.11:c.1147G= (LHCGR)	ENSP00000294954.6:p.Val383=
ENST00000401907.5:c.948-511G= (LHCGR)	ENSP00000385406.1:n.948-511G=
ENST00000402114.6:c.3441+16970C= (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16970C=
ENST00000403273.5:c.948-67G= (LHCGR)	ENSP00000385847.1:n.948-67G=
ENST00000405626.5:c.1066G= (LHCGR)	ENSP00000386033.1:p.Val356=
ENST00000508440.1:c.276+16970C= (GTF2A1L)	ENSP00000421474.1:n.276+16970C=
ENST00000602369.3:c.*220+5574G=	ENSP00000473498.1:n.*220+5574G=
NM_000233.3:c.1147G= (LHCGR)	NP_000224.2:p.Val383=
NM_001198593.1:c.3441+16970C= (STON1-GTF2A1L)	NP_001185522.1:n.3441+16970C=
XM_005264309.2:c.190G= (LHCGR)	XP_005264366.1:p.Val64=
XM_006712015.2:c.217G= (LHCGR)	XP_006712078.1:p.Val73=
XM_011532828.1:c.1072G= (LHCGR)	XP_011531130.1:p.Val358=
XM_011532829.1:c.886G= (LHCGR)	XP_011531131.1:p.Val296=
XM_011532830.1:c.805G= (LHCGR)	XP_011531132.1:p.Val269=
XM_011532831.1:c.511G= (LHCGR)	XP_011531133.1:p.Val171=
XM_011532832.1:c.217G= (LHCGR)	XP_011531134.1:p.Val73=
XM_011532833.1:c.217G= (LHCGR)	XP_011531135.1:p.Val73=
XM_011532834.1:c.190G= (LHCGR)	XP_011531136.1:p.Val64=
XM_005264309.3:c.190G= (LHCGR)	XP_005264366.1:p.Val64=
XM_006712015.3:c.217G= (LHCGR)	XP_006712078.1:p.Val73=
XM_011532834.2:c.190G= (LHCGR)	XP_011531136.1:p.Val64=
XM_017004089.1:c.892G= (LHCGR)	XP_016859578.1:p.Val298=
XM_017004090.1:c.511G= (LHCGR)	XP_016859579.1:p.Val171=
NM_000233.4:c.1147G= (LHCGR) MANE Select	NP_000224.2:p.Val383=
NM_001198593.2:c.3441+16970C= (STON1-GTF2A1L)	NP_001185522.1:n.3441+16970C=