Canonical Allele Identifier: CA1653099

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs772854910
• ExAC: 2:48915944 T / C
• gnomAD v2: 2-48915944-T-C
• gnomAD v4: 2-48688805-T-C
• MyVariant Identifiers: chr2:g.48915944T>C (hg19) ; chr2:g.48688805T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688805T>C , CM000664.2:g.48688805T>C	GRCh38
NC_000002.11:g.48915944T>C , CM000664.1:g.48915944T>C	GRCh37
NC_000002.10:g.48769448T>C	NCBI36
NG_008193.1:g.71937A>G
NG_033050.1:g.163881T>C
NG_008193.2:g.71937A>G
NG_033050.2:g.163881T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.992A>G (LHCGR) MANE Select	ENSP00000294954.6:p.Tyr331Cys
ENST00000294954.11:c.992A>G (LHCGR)	ENSP00000294954.6:p.Tyr331Cys
ENST00000401907.5:c.948-666A>G (LHCGR)	ENSP00000385406.1:n.948-666A>G
ENST00000402114.6:c.3441+17125T>C (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+17125T>C
ENST00000403273.5:c.948-222A>G (LHCGR)	ENSP00000385847.1:n.948-222A>G
ENST00000405626.5:c.911A>G (LHCGR)	ENSP00000386033.1:p.Tyr304Cys
ENST00000508440.1:c.276+17125T>C (GTF2A1L)	ENSP00000421474.1:n.276+17125T>C
ENST00000602369.3:c.*220+5419A>G	ENSP00000473498.1:n.*220+5419A>G
NM_000233.3:c.992A>G (LHCGR)	NP_000224.2:p.Tyr331Cys
NM_001198593.1:c.3441+17125T>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+17125T>C
XM_005264309.2:c.35A>G (LHCGR)	XP_005264366.1:p.Tyr12Cys
XM_006712015.2:c.62A>G (LHCGR)	XP_006712078.1:p.Tyr21Cys
XM_011532828.1:c.917A>G (LHCGR)	XP_011531130.1:p.Tyr306Cys
XM_011532829.1:c.731A>G (LHCGR)	XP_011531131.1:p.Tyr244Cys
XM_011532830.1:c.650A>G (LHCGR)	XP_011531132.1:p.Tyr217Cys
XM_011532831.1:c.356A>G (LHCGR)	XP_011531133.1:p.Tyr119Cys
XM_011532832.1:c.62A>G (LHCGR)	XP_011531134.1:p.Tyr21Cys
XM_011532833.1:c.62A>G (LHCGR)	XP_011531135.1:p.Tyr21Cys
XM_011532834.1:c.35A>G (LHCGR)	XP_011531136.1:p.Tyr12Cys
XM_005264309.3:c.35A>G (LHCGR)	XP_005264366.1:p.Tyr12Cys
XM_006712015.3:c.62A>G (LHCGR)	XP_006712078.1:p.Tyr21Cys
XM_011532834.2:c.35A>G (LHCGR)	XP_011531136.1:p.Tyr12Cys
XM_017004089.1:c.737A>G (LHCGR)	XP_016859578.1:p.Tyr246Cys
XM_017004090.1:c.356A>G (LHCGR)	XP_016859579.1:p.Tyr119Cys
NM_000233.4:c.992A>G (LHCGR) MANE Select	NP_000224.2:p.Tyr331Cys
NM_001198593.2:c.3441+17125T>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+17125T>C