Canonical Allele Identifier: CA426125655

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• MyVariant Identifiers: chr2:g.48915117A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687978A>G , CM000664.2:g.48687978A>G	GRCh38
NC_000002.11:g.48915117A>G , CM000664.1:g.48915117A>G	GRCh37
NC_000002.10:g.48768621A>G	NCBI36
NG_008193.1:g.72764T>C
NG_033050.1:g.163054A>G
NG_008193.2:g.72764T>C
NG_033050.2:g.163054A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.1819T>C (LHCGR) MANE Select	ENSP00000294954.6:p.Leu607=
ENST00000294954.11:c.1819T>C (LHCGR)	ENSP00000294954.6:p.Leu607=
ENST00000401907.5:c.*131T>C (LHCGR)	ENSP00000385406.1:n.*131T>C
ENST00000402114.6:c.3441+16298A>G (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16298A>G
ENST00000403273.5:c.*563T>C (LHCGR)	ENSP00000385847.1:n.*563T>C
ENST00000405626.5:c.1738T>C (LHCGR)	ENSP00000386033.1:p.Leu580=
ENST00000508440.1:c.276+16298A>G (GTF2A1L)	ENSP00000421474.1:n.276+16298A>G
ENST00000602369.3:c.*220+6246T>C	ENSP00000473498.1:n.*220+6246T>C
NM_000233.3:c.1819T>C (LHCGR)	NP_000224.2:p.Leu607=
NM_001198593.1:c.3441+16298A>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+16298A>G
XM_005264309.2:c.862T>C (LHCGR)	XP_005264366.1:p.Leu288=
XM_006712015.2:c.889T>C (LHCGR)	XP_006712078.1:p.Leu297=
XM_011532828.1:c.1744T>C (LHCGR)	XP_011531130.1:p.Leu582=
XM_011532829.1:c.1558T>C (LHCGR)	XP_011531131.1:p.Leu520=
XM_011532830.1:c.1477T>C (LHCGR)	XP_011531132.1:p.Leu493=
XM_011532831.1:c.1183T>C (LHCGR)	XP_011531133.1:p.Leu395=
XM_011532832.1:c.889T>C (LHCGR)	XP_011531134.1:p.Leu297=
XM_011532833.1:c.889T>C (LHCGR)	XP_011531135.1:p.Leu297=
XM_011532834.1:c.862T>C (LHCGR)	XP_011531136.1:p.Leu288=
XM_005264309.3:c.862T>C (LHCGR)	XP_005264366.1:p.Leu288=
XM_006712015.3:c.889T>C (LHCGR)	XP_006712078.1:p.Leu297=
XM_011532834.2:c.862T>C (LHCGR)	XP_011531136.1:p.Leu288=
XM_017004089.1:c.1564T>C (LHCGR)	XP_016859578.1:p.Leu522=
XM_017004090.1:c.1183T>C (LHCGR)	XP_016859579.1:p.Leu395=
NM_000233.4:c.1819T>C (LHCGR) MANE Select	NP_000224.2:p.Leu607=
NM_001198593.2:c.3441+16298A>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+16298A>G