Canonical Allele Identifier: CA1248600915

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687950G= , CM000664.2:g.48687950G=	GRCh38
NC_000002.11:g.48915089G= , CM000664.1:g.48915089G=	GRCh37
NC_000002.10:g.48768593G=	NCBI36
NG_008193.1:g.72792C=
NG_033050.1:g.163026G=
NG_008193.2:g.72792C=
NG_033050.2:g.163026G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.1847C= (LHCGR) MANE Select	ENSP00000294954.6:p.Ser616=
ENST00000294954.11:c.1847C= (LHCGR)	ENSP00000294954.6:p.Ser616=
ENST00000401907.5:c.*159C= (LHCGR)	ENSP00000385406.1:n.*159C=
ENST00000402114.6:c.3441+16270G= (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16270G=
ENST00000403273.5:c.*591C= (LHCGR)	ENSP00000385847.1:n.*591C=
ENST00000405626.5:c.1766C= (LHCGR)	ENSP00000386033.1:p.Ser589=
ENST00000508440.1:c.276+16270G= (GTF2A1L)	ENSP00000421474.1:n.276+16270G=
ENST00000602369.3:c.*220+6274C=	ENSP00000473498.1:n.*220+6274C=
NM_000233.3:c.1847C= (LHCGR)	NP_000224.2:p.Ser616=
NM_001198593.1:c.3441+16270G= (STON1-GTF2A1L)	NP_001185522.1:n.3441+16270G=
XM_005264309.2:c.890C= (LHCGR)	XP_005264366.1:p.Ser297=
XM_006712015.2:c.917C= (LHCGR)	XP_006712078.1:p.Ser306=
XM_011532828.1:c.1772C= (LHCGR)	XP_011531130.1:p.Ser591=
XM_011532829.1:c.1586C= (LHCGR)	XP_011531131.1:p.Ser529=
XM_011532830.1:c.1505C= (LHCGR)	XP_011531132.1:p.Ser502=
XM_011532831.1:c.1211C= (LHCGR)	XP_011531133.1:p.Ser404=
XM_011532832.1:c.917C= (LHCGR)	XP_011531134.1:p.Ser306=
XM_011532833.1:c.917C= (LHCGR)	XP_011531135.1:p.Ser306=
XM_011532834.1:c.890C= (LHCGR)	XP_011531136.1:p.Ser297=
XM_005264309.3:c.890C= (LHCGR)	XP_005264366.1:p.Ser297=
XM_006712015.3:c.917C= (LHCGR)	XP_006712078.1:p.Ser306=
XM_011532834.2:c.890C= (LHCGR)	XP_011531136.1:p.Ser297=
XM_017004089.1:c.1592C= (LHCGR)	XP_016859578.1:p.Ser531=
XM_017004090.1:c.1211C= (LHCGR)	XP_016859579.1:p.Ser404=
NM_000233.4:c.1847C= (LHCGR) MANE Select	NP_000224.2:p.Ser616=
NM_001198593.2:c.3441+16270G= (STON1-GTF2A1L)	NP_001185522.1:n.3441+16270G=