Canonical Allele Identifier: CA1248601019

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688173T= , CM000664.2:g.48688173T=	GRCh38
NC_000002.11:g.48915312T= , CM000664.1:g.48915312T=	GRCh37
NC_000002.10:g.48768816T=	NCBI36
NG_008193.1:g.72569A=
NG_033050.1:g.163249T=
NG_008193.2:g.72569A=
NG_033050.2:g.163249T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1624A= (LHCGR) MANE Select	ENSP00000294954.6:p.Ile542=
ENST00000294954.11:c.1624A= (LHCGR)	ENSP00000294954.6:p.Ile542=
ENST00000401907.5:c.948-34A= (LHCGR)	ENSP00000385406.1:n.948-34A=
ENST00000402114.6:c.3441+16493T= (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16493T=
ENST00000403273.5:c.*368A= (LHCGR)	ENSP00000385847.1:n.*368A=
ENST00000405626.5:c.1543A= (LHCGR)	ENSP00000386033.1:p.Ile515=
ENST00000508440.1:c.276+16493T= (GTF2A1L)	ENSP00000421474.1:n.276+16493T=
ENST00000602369.3:c.*220+6051A=	ENSP00000473498.1:n.*220+6051A=
NM_000233.3:c.1624A= (LHCGR)	NP_000224.2:p.Ile542=
NM_001198593.1:c.3441+16493T= (STON1-GTF2A1L)	NP_001185522.1:n.3441+16493T=
XM_005264309.2:c.667A= (LHCGR)	XP_005264366.1:p.Ile223=
XM_006712015.2:c.694A= (LHCGR)	XP_006712078.1:p.Ile232=
XM_011532828.1:c.1549A= (LHCGR)	XP_011531130.1:p.Ile517=
XM_011532829.1:c.1363A= (LHCGR)	XP_011531131.1:p.Ile455=
XM_011532830.1:c.1282A= (LHCGR)	XP_011531132.1:p.Ile428=
XM_011532831.1:c.988A= (LHCGR)	XP_011531133.1:p.Ile330=
XM_011532832.1:c.694A= (LHCGR)	XP_011531134.1:p.Ile232=
XM_011532833.1:c.694A= (LHCGR)	XP_011531135.1:p.Ile232=
XM_011532834.1:c.667A= (LHCGR)	XP_011531136.1:p.Ile223=
XM_005264309.3:c.667A= (LHCGR)	XP_005264366.1:p.Ile223=
XM_006712015.3:c.694A= (LHCGR)	XP_006712078.1:p.Ile232=
XM_011532834.2:c.667A= (LHCGR)	XP_011531136.1:p.Ile223=
XM_017004089.1:c.1369A= (LHCGR)	XP_016859578.1:p.Ile457=
XM_017004090.1:c.988A= (LHCGR)	XP_016859579.1:p.Ile330=
NM_000233.4:c.1624A= (LHCGR) MANE Select	NP_000224.2:p.Ile542=
NM_001198593.2:c.3441+16493T= (STON1-GTF2A1L)	NP_001185522.1:n.3441+16493T=