Canonical Allele Identifier: CA1248600868

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687845T= , CM000664.2:g.48687845T=	GRCh38
NC_000002.11:g.48914984T= , CM000664.1:g.48914984T=	GRCh37
NC_000002.10:g.48768488T=	NCBI36
NG_008193.1:g.72897A=
NG_033050.1:g.162921T=
NG_008193.2:g.72897A=
NG_033050.2:g.162921T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1952A= (LHCGR) MANE Select	ENSP00000294954.6:p.Tyr651=
ENST00000294954.11:c.1952A= (LHCGR)	ENSP00000294954.6:p.Tyr651=
ENST00000401907.5:c.*264A= (LHCGR)	ENSP00000385406.1:n.*264A=
ENST00000402114.6:c.3441+16165T= (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16165T=
ENST00000403273.5:c.*696A= (LHCGR)	ENSP00000385847.1:n.*696A=
ENST00000405626.5:c.1871A= (LHCGR)	ENSP00000386033.1:p.Tyr624=
ENST00000508440.1:c.276+16165T= (GTF2A1L)	ENSP00000421474.1:n.276+16165T=
ENST00000602369.3:c.*220+6379A=	ENSP00000473498.1:n.*220+6379A=
NM_000233.3:c.1952A= (LHCGR)	NP_000224.2:p.Tyr651=
NM_001198593.1:c.3441+16165T= (STON1-GTF2A1L)	NP_001185522.1:n.3441+16165T=
XM_005264309.2:c.995A= (LHCGR)	XP_005264366.1:p.Tyr332=
XM_006712015.2:c.1022A= (LHCGR)	XP_006712078.1:p.Tyr341=
XM_011532828.1:c.1877A= (LHCGR)	XP_011531130.1:p.Tyr626=
XM_011532829.1:c.1691A= (LHCGR)	XP_011531131.1:p.Tyr564=
XM_011532830.1:c.1610A= (LHCGR)	XP_011531132.1:p.Tyr537=
XM_011532831.1:c.1316A= (LHCGR)	XP_011531133.1:p.Tyr439=
XM_011532832.1:c.1022A= (LHCGR)	XP_011531134.1:p.Tyr341=
XM_011532833.1:c.1022A= (LHCGR)	XP_011531135.1:p.Tyr341=
XM_011532834.1:c.995A= (LHCGR)	XP_011531136.1:p.Tyr332=
XM_005264309.3:c.995A= (LHCGR)	XP_005264366.1:p.Tyr332=
XM_006712015.3:c.1022A= (LHCGR)	XP_006712078.1:p.Tyr341=
XM_011532834.2:c.995A= (LHCGR)	XP_011531136.1:p.Tyr332=
XM_017004089.1:c.1697A= (LHCGR)	XP_016859578.1:p.Tyr566=
XM_017004090.1:c.1316A= (LHCGR)	XP_016859579.1:p.Tyr439=
NM_000233.4:c.1952A= (LHCGR) MANE Select	NP_000224.2:p.Tyr651=
NM_001198593.2:c.3441+16165T= (STON1-GTF2A1L)	NP_001185522.1:n.3441+16165T=