Canonical Allele Identifier: CA1248614389

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48714023G= , CM000664.2:g.48714023G=	GRCh38
NC_000002.11:g.48941162G= , CM000664.1:g.48941162G=	GRCh37
NC_000002.10:g.48794666G=	NCBI36
NG_008193.1:g.46719C=
NG_033050.1:g.189099G=
NG_008193.2:g.46719C=
NG_033050.2:g.189099G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.568C= (LHCGR) MANE Select	ENSP00000294954.6:p.Gln190=
ENST00000294954.11:c.568C= (LHCGR)	ENSP00000294954.6:p.Gln190=
ENST00000401907.5:c.568C= (LHCGR)	ENSP00000385406.1:p.Gln190=
ENST00000402114.6:c.3441+42343G= (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+42343G=
ENST00000403273.5:c.568C= (LHCGR)	ENSP00000385847.1:p.Gln190=
ENST00000405626.5:c.568C= (LHCGR)	ENSP00000386033.1:p.Gln190=
ENST00000477576.1:n.91C= (LHCGR)
ENST00000508440.1:c.277-18870G= (GTF2A1L)	ENSP00000421474.1:n.277-18870G=
ENST00000602369.3:c.493C=	ENSP00000473498.1:p.Gln165=
NM_000233.3:c.568C= (LHCGR)	NP_000224.2:p.Gln190=
NM_001198593.1:c.3441+42343G= (STON1-GTF2A1L)	NP_001185522.1:n.3441+42343G=
XM_011532828.1:c.493C= (LHCGR)	XP_011531130.1:p.Gln165=
XM_011532829.1:c.493C= (LHCGR)	XP_011531131.1:p.Gln165=
XM_011532830.1:c.493C= (LHCGR)	XP_011531132.1:p.Gln165=
XM_011532831.1:c.-69C= (LHCGR)	XP_011531133.1:n.-69C=
XM_017004089.1:c.499C= (LHCGR)	XP_016859578.1:p.Gln167=
NM_000233.4:c.568C= (LHCGR) MANE Select	NP_000224.2:p.Gln190=
NM_001198593.2:c.3441+42343G= (STON1-GTF2A1L)	NP_001185522.1:n.3441+42343G=