Canonical Allele Identifier: CA1248601047

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688242C= , CM000664.2:g.48688242C=	GRCh38
NC_000002.11:g.48915381C= , CM000664.1:g.48915381C=	GRCh37
NC_000002.10:g.48768885C=	NCBI36
NG_008193.1:g.72500G=
NG_033050.1:g.163318C=
NG_008193.2:g.72500G=
NG_033050.2:g.163318C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1555G= (LHCGR) MANE Select	ENSP00000294954.6:p.Val519=
ENST00000294954.11:c.1555G= (LHCGR)	ENSP00000294954.6:p.Val519=
ENST00000401907.5:c.948-103G= (LHCGR)	ENSP00000385406.1:n.948-103G=
ENST00000402114.6:c.3441+16562C= (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16562C=
ENST00000403273.5:c.*299G= (LHCGR)	ENSP00000385847.1:n.*299G=
ENST00000405626.5:c.1474G= (LHCGR)	ENSP00000386033.1:p.Val492=
ENST00000508440.1:c.276+16562C= (GTF2A1L)	ENSP00000421474.1:n.276+16562C=
ENST00000602369.3:c.*220+5982G=	ENSP00000473498.1:n.*220+5982G=
NM_000233.3:c.1555G= (LHCGR)	NP_000224.2:p.Val519=
NM_001198593.1:c.3441+16562C= (STON1-GTF2A1L)	NP_001185522.1:n.3441+16562C=
XM_005264309.2:c.598G= (LHCGR)	XP_005264366.1:p.Val200=
XM_006712015.2:c.625G= (LHCGR)	XP_006712078.1:p.Val209=
XM_011532828.1:c.1480G= (LHCGR)	XP_011531130.1:p.Val494=
XM_011532829.1:c.1294G= (LHCGR)	XP_011531131.1:p.Val432=
XM_011532830.1:c.1213G= (LHCGR)	XP_011531132.1:p.Val405=
XM_011532831.1:c.919G= (LHCGR)	XP_011531133.1:p.Val307=
XM_011532832.1:c.625G= (LHCGR)	XP_011531134.1:p.Val209=
XM_011532833.1:c.625G= (LHCGR)	XP_011531135.1:p.Val209=
XM_011532834.1:c.598G= (LHCGR)	XP_011531136.1:p.Val200=
XM_005264309.3:c.598G= (LHCGR)	XP_005264366.1:p.Val200=
XM_006712015.3:c.625G= (LHCGR)	XP_006712078.1:p.Val209=
XM_011532834.2:c.598G= (LHCGR)	XP_011531136.1:p.Val200=
XM_017004089.1:c.1300G= (LHCGR)	XP_016859578.1:p.Val434=
XM_017004090.1:c.919G= (LHCGR)	XP_016859579.1:p.Val307=
NM_000233.4:c.1555G= (LHCGR) MANE Select	NP_000224.2:p.Val519=
NM_001198593.2:c.3441+16562C= (STON1-GTF2A1L)	NP_001185522.1:n.3441+16562C=