Canonical Allele Identifier: CA346744014

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• MyVariant Identifiers: chr2:g.48915058G>T (hg19) ; chr2:g.48687919G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687919G>T , CM000664.2:g.48687919G>T	GRCh38
NC_000002.11:g.48915058G>T , CM000664.1:g.48915058G>T	GRCh37
NC_000002.10:g.48768562G>T	NCBI36
NG_008193.1:g.72823C>A
NG_033050.1:g.162995G>T
NG_008193.2:g.72823C>A
NG_033050.2:g.162995G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1878C>A (LHCGR) MANE Select	ENSP00000294954.6:p.Phe626Leu
ENST00000294954.11:c.1878C>A (LHCGR)	ENSP00000294954.6:p.Phe626Leu
ENST00000401907.5:c.*190C>A (LHCGR)	ENSP00000385406.1:n.*190C>A
ENST00000402114.6:c.3441+16239G>T (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16239G>T
ENST00000403273.5:c.*622C>A (LHCGR)	ENSP00000385847.1:n.*622C>A
ENST00000405626.5:c.1797C>A (LHCGR)	ENSP00000386033.1:p.Phe599Leu
ENST00000508440.1:c.276+16239G>T (GTF2A1L)	ENSP00000421474.1:n.276+16239G>T
ENST00000602369.3:c.*220+6305C>A	ENSP00000473498.1:n.*220+6305C>A
NM_000233.3:c.1878C>A (LHCGR)	NP_000224.2:p.Phe626Leu
NM_001198593.1:c.3441+16239G>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+16239G>T
XM_005264309.2:c.921C>A (LHCGR)	XP_005264366.1:p.Phe307Leu
XM_006712015.2:c.948C>A (LHCGR)	XP_006712078.1:p.Phe316Leu
XM_011532828.1:c.1803C>A (LHCGR)	XP_011531130.1:p.Phe601Leu
XM_011532829.1:c.1617C>A (LHCGR)	XP_011531131.1:p.Phe539Leu
XM_011532830.1:c.1536C>A (LHCGR)	XP_011531132.1:p.Phe512Leu
XM_011532831.1:c.1242C>A (LHCGR)	XP_011531133.1:p.Phe414Leu
XM_011532832.1:c.948C>A (LHCGR)	XP_011531134.1:p.Phe316Leu
XM_011532833.1:c.948C>A (LHCGR)	XP_011531135.1:p.Phe316Leu
XM_011532834.1:c.921C>A (LHCGR)	XP_011531136.1:p.Phe307Leu
XM_005264309.3:c.921C>A (LHCGR)	XP_005264366.1:p.Phe307Leu
XM_006712015.3:c.948C>A (LHCGR)	XP_006712078.1:p.Phe316Leu
XM_011532834.2:c.921C>A (LHCGR)	XP_011531136.1:p.Phe307Leu
XM_017004089.1:c.1623C>A (LHCGR)	XP_016859578.1:p.Phe541Leu
XM_017004090.1:c.1242C>A (LHCGR)	XP_016859579.1:p.Phe414Leu
NM_000233.4:c.1878C>A (LHCGR) MANE Select	NP_000224.2:p.Phe626Leu
NM_001198593.2:c.3441+16239G>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+16239G>T