Canonical Allele Identifier: CA123916

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• ClinVar Variation Id: 14384
• ClinVar RCV Id: RCV000015461 ; RCV000517056 ; RCV000583503 ; RCV000763499
• dbSNP Id: rs121912518
• MyVariant Identifiers: chr2:g.48915203T>C (hg19) ; chr2:g.48688064T>C (hg38)
• PubMed: PMID:7527413 ; PMID:7562970 ; PMID:7692306 ; PMID:7714085 ; PMID:7757065 ; PMID:7892197 ; PMID:8281137 ; PMID:8855841 ; PMID:8943222 ; PMID:9703386 ; PMID:12356766 ; PMID:16887451 ; PMID:21490077 ; PMID:23686864 ; PMID:23861372 ; PMID:26040673

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688064T>C , CM000664.2:g.48688064T>C	GRCh38
NC_000002.11:g.48915203T>C , CM000664.1:g.48915203T>C	GRCh37
NC_000002.10:g.48768707T>C	NCBI36
NG_008193.1:g.72678A>G
NG_033050.1:g.163140T>C
NG_008193.2:g.72678A>G
NG_033050.2:g.163140T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.1733A>G (LHCGR) MANE Select	ENSP00000294954.6:p.Asp578Gly
ENST00000294954.11:c.1733A>G (LHCGR)	ENSP00000294954.6:p.Asp578Gly
ENST00000401907.5:c.*45A>G (LHCGR)	ENSP00000385406.1:n.*45A>G
ENST00000402114.6:c.3441+16384T>C (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16384T>C
ENST00000403273.5:c.*477A>G (LHCGR)	ENSP00000385847.1:n.*477A>G
ENST00000405626.5:c.1652A>G (LHCGR)	ENSP00000386033.1:p.Asp551Gly
ENST00000508440.1:c.276+16384T>C (GTF2A1L)	ENSP00000421474.1:n.276+16384T>C
ENST00000602369.3:c.*220+6160A>G	ENSP00000473498.1:n.*220+6160A>G
NM_000233.3:c.1733A>G (LHCGR)	NP_000224.2:p.Asp578Gly
NM_001198593.1:c.3441+16384T>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16384T>C
XM_005264309.2:c.776A>G (LHCGR)	XP_005264366.1:p.Asp259Gly
XM_006712015.2:c.803A>G (LHCGR)	XP_006712078.1:p.Asp268Gly
XM_011532828.1:c.1658A>G (LHCGR)	XP_011531130.1:p.Asp553Gly
XM_011532829.1:c.1472A>G (LHCGR)	XP_011531131.1:p.Asp491Gly
XM_011532830.1:c.1391A>G (LHCGR)	XP_011531132.1:p.Asp464Gly
XM_011532831.1:c.1097A>G (LHCGR)	XP_011531133.1:p.Asp366Gly
XM_011532832.1:c.803A>G (LHCGR)	XP_011531134.1:p.Asp268Gly
XM_011532833.1:c.803A>G (LHCGR)	XP_011531135.1:p.Asp268Gly
XM_011532834.1:c.776A>G (LHCGR)	XP_011531136.1:p.Asp259Gly
XM_005264309.3:c.776A>G (LHCGR)	XP_005264366.1:p.Asp259Gly
XM_006712015.3:c.803A>G (LHCGR)	XP_006712078.1:p.Asp268Gly
XM_011532834.2:c.776A>G (LHCGR)	XP_011531136.1:p.Asp259Gly
XM_017004089.1:c.1478A>G (LHCGR)	XP_016859578.1:p.Asp493Gly
XM_017004090.1:c.1097A>G (LHCGR)	XP_016859579.1:p.Asp366Gly
NM_000233.4:c.1733A>G (LHCGR) MANE Select	NP_000224.2:p.Asp578Gly
NM_001198593.2:c.3441+16384T>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16384T>C