Canonical Allele Identifier: CA1248619272

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48723689A= , CM000664.2:g.48723689A=	GRCh38
NC_000002.11:g.48950828A= , CM000664.1:g.48950828A=	GRCh37
NC_000002.10:g.48804332A=	NCBI36
NG_008193.1:g.37053T=
NG_033050.1:g.198765A=
NG_008193.2:g.37053T=
NG_033050.2:g.198765A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.391T= (LHCGR) MANE Select	ENSP00000294954.6:p.Cys131=
ENST00000294954.11:c.391T= (LHCGR)	ENSP00000294954.6:p.Cys131=
ENST00000401907.5:c.391T= (LHCGR)	ENSP00000385406.1:p.Cys131=
ENST00000402114.6:c.3441+52009A= (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+52009A=
ENST00000403273.5:c.391T= (LHCGR)	ENSP00000385847.1:p.Cys131=
ENST00000405626.5:c.391T= (LHCGR)	ENSP00000386033.1:p.Cys131=
ENST00000428232.2:c.289T= (LHCGR)	ENSP00000403748.1:p.Cys97=
ENST00000508440.1:c.277-9204A= (GTF2A1L)	ENSP00000421474.1:n.277-9204A=
ENST00000602369.3:c.316T=	ENSP00000473498.1:p.Cys106=
NM_000233.3:c.391T= (LHCGR)	NP_000224.2:p.Cys131=
NM_001198593.1:c.3441+52009A= (STON1-GTF2A1L)	NP_001185522.1:n.3441+52009A=
XM_011532828.1:c.316T= (LHCGR)	XP_011531130.1:p.Cys106=
XM_011532829.1:c.316T= (LHCGR)	XP_011531131.1:p.Cys106=
XM_011532830.1:c.316T= (LHCGR)	XP_011531132.1:p.Cys106=
XM_017004089.1:c.322T= (LHCGR)	XP_016859578.1:p.Cys108=
NM_000233.4:c.391T= (LHCGR) MANE Select	NP_000224.2:p.Cys131=
NM_001198593.2:c.3441+52009A= (STON1-GTF2A1L)	NP_001185522.1:n.3441+52009A=