Canonical Allele Identifier: CA1248601059

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688283A= , CM000664.2:g.48688283A=	GRCh38
NC_000002.11:g.48915422A= , CM000664.1:g.48915422A=	GRCh37
NC_000002.10:g.48768926A=	NCBI36
NG_008193.1:g.72459T=
NG_033050.1:g.163359A=
NG_008193.2:g.72459T=
NG_033050.2:g.163359A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1514T= (LHCGR) MANE Select	ENSP00000294954.6:p.Val505=
ENST00000294954.11:c.1514T= (LHCGR)	ENSP00000294954.6:p.Val505=
ENST00000401907.5:c.948-144T= (LHCGR)	ENSP00000385406.1:n.948-144T=
ENST00000402114.6:c.3441+16603A= (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16603A=
ENST00000403273.5:c.*258T= (LHCGR)	ENSP00000385847.1:n.*258T=
ENST00000405626.5:c.1433T= (LHCGR)	ENSP00000386033.1:p.Val478=
ENST00000508440.1:c.276+16603A= (GTF2A1L)	ENSP00000421474.1:n.276+16603A=
ENST00000602369.3:c.*220+5941T=	ENSP00000473498.1:n.*220+5941T=
NM_000233.3:c.1514T= (LHCGR)	NP_000224.2:p.Val505=
NM_001198593.1:c.3441+16603A= (STON1-GTF2A1L)	NP_001185522.1:n.3441+16603A=
XM_005264309.2:c.557T= (LHCGR)	XP_005264366.1:p.Val186=
XM_006712015.2:c.584T= (LHCGR)	XP_006712078.1:p.Val195=
XM_011532828.1:c.1439T= (LHCGR)	XP_011531130.1:p.Val480=
XM_011532829.1:c.1253T= (LHCGR)	XP_011531131.1:p.Val418=
XM_011532830.1:c.1172T= (LHCGR)	XP_011531132.1:p.Val391=
XM_011532831.1:c.878T= (LHCGR)	XP_011531133.1:p.Val293=
XM_011532832.1:c.584T= (LHCGR)	XP_011531134.1:p.Val195=
XM_011532833.1:c.584T= (LHCGR)	XP_011531135.1:p.Val195=
XM_011532834.1:c.557T= (LHCGR)	XP_011531136.1:p.Val186=
XM_005264309.3:c.557T= (LHCGR)	XP_005264366.1:p.Val186=
XM_006712015.3:c.584T= (LHCGR)	XP_006712078.1:p.Val195=
XM_011532834.2:c.557T= (LHCGR)	XP_011531136.1:p.Val186=
XM_017004089.1:c.1259T= (LHCGR)	XP_016859578.1:p.Val420=
XM_017004090.1:c.878T= (LHCGR)	XP_016859579.1:p.Val293=
NM_000233.4:c.1514T= (LHCGR) MANE Select	NP_000224.2:p.Val505=
NM_001198593.2:c.3441+16603A= (STON1-GTF2A1L)	NP_001185522.1:n.3441+16603A=