Canonical Allele Identifier: CA346745691

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• MyVariant Identifiers: chr2:g.48915303A>C (hg19) ; chr2:g.48688164A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688164A>C , CM000664.2:g.48688164A>C	GRCh38
NC_000002.11:g.48915303A>C , CM000664.1:g.48915303A>C	GRCh37
NC_000002.10:g.48768807A>C	NCBI36
NG_008193.1:g.72578T>G
NG_033050.1:g.163240A>C
NG_008193.2:g.72578T>G
NG_033050.2:g.163240A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1633T>G (LHCGR) MANE Select	ENSP00000294954.6:p.Cys545Gly
ENST00000294954.11:c.1633T>G (LHCGR)	ENSP00000294954.6:p.Cys545Gly
ENST00000401907.5:c.948-25T>G (LHCGR)	ENSP00000385406.1:n.948-25T>G
ENST00000402114.6:c.3441+16484A>C (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16484A>C
ENST00000403273.5:c.*377T>G (LHCGR)	ENSP00000385847.1:n.*377T>G
ENST00000405626.5:c.1552T>G (LHCGR)	ENSP00000386033.1:p.Cys518Gly
ENST00000508440.1:c.276+16484A>C (GTF2A1L)	ENSP00000421474.1:n.276+16484A>C
ENST00000602369.3:c.*220+6060T>G	ENSP00000473498.1:n.*220+6060T>G
NM_000233.3:c.1633T>G (LHCGR)	NP_000224.2:p.Cys545Gly
NM_001198593.1:c.3441+16484A>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16484A>C
XM_005264309.2:c.676T>G (LHCGR)	XP_005264366.1:p.Cys226Gly
XM_006712015.2:c.703T>G (LHCGR)	XP_006712078.1:p.Cys235Gly
XM_011532828.1:c.1558T>G (LHCGR)	XP_011531130.1:p.Cys520Gly
XM_011532829.1:c.1372T>G (LHCGR)	XP_011531131.1:p.Cys458Gly
XM_011532830.1:c.1291T>G (LHCGR)	XP_011531132.1:p.Cys431Gly
XM_011532831.1:c.997T>G (LHCGR)	XP_011531133.1:p.Cys333Gly
XM_011532832.1:c.703T>G (LHCGR)	XP_011531134.1:p.Cys235Gly
XM_011532833.1:c.703T>G (LHCGR)	XP_011531135.1:p.Cys235Gly
XM_011532834.1:c.676T>G (LHCGR)	XP_011531136.1:p.Cys226Gly
XM_005264309.3:c.676T>G (LHCGR)	XP_005264366.1:p.Cys226Gly
XM_006712015.3:c.703T>G (LHCGR)	XP_006712078.1:p.Cys235Gly
XM_011532834.2:c.676T>G (LHCGR)	XP_011531136.1:p.Cys226Gly
XM_017004089.1:c.1378T>G (LHCGR)	XP_016859578.1:p.Cys460Gly
XM_017004090.1:c.997T>G (LHCGR)	XP_016859579.1:p.Cys333Gly
NM_000233.4:c.1633T>G (LHCGR) MANE Select	NP_000224.2:p.Cys545Gly
NM_001198593.2:c.3441+16484A>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16484A>C