Canonical Allele Identifier: CA346750433

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• COSMIC: COSM6056409
• MyVariant Identifiers: chr2:g.48915967C>A (hg19) ; chr2:g.48688828C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688828C>A , CM000664.2:g.48688828C>A	GRCh38
NC_000002.11:g.48915967C>A , CM000664.1:g.48915967C>A	GRCh37
NC_000002.10:g.48769471C>A	NCBI36
NG_008193.1:g.71914G>T
NG_033050.1:g.163904C>A
NG_008193.2:g.71914G>T
NG_033050.2:g.163904C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.969G>T (LHCGR) MANE Select	ENSP00000294954.6:p.Glu323Asp
ENST00000294954.11:c.969G>T (LHCGR)	ENSP00000294954.6:p.Glu323Asp
ENST00000401907.5:c.948-689G>T (LHCGR)	ENSP00000385406.1:n.948-689G>T
ENST00000402114.6:c.3441+17148C>A (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+17148C>A
ENST00000403273.5:c.948-245G>T (LHCGR)	ENSP00000385847.1:n.948-245G>T
ENST00000405626.5:c.888G>T (LHCGR)	ENSP00000386033.1:p.Glu296Asp
ENST00000508440.1:c.276+17148C>A (GTF2A1L)	ENSP00000421474.1:n.276+17148C>A
ENST00000602369.3:c.*220+5396G>T	ENSP00000473498.1:n.*220+5396G>T
NM_000233.3:c.969G>T (LHCGR)	NP_000224.2:p.Glu323Asp
NM_001198593.1:c.3441+17148C>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+17148C>A
XM_005264309.2:c.12G>T (LHCGR)	XP_005264366.1:p.Glu4Asp
XM_006712015.2:c.39G>T (LHCGR)	XP_006712078.1:p.Glu13Asp
XM_011532828.1:c.894G>T (LHCGR)	XP_011531130.1:p.Glu298Asp
XM_011532829.1:c.708G>T (LHCGR)	XP_011531131.1:p.Glu236Asp
XM_011532830.1:c.627G>T (LHCGR)	XP_011531132.1:p.Glu209Asp
XM_011532831.1:c.333G>T (LHCGR)	XP_011531133.1:p.Glu111Asp
XM_011532832.1:c.39G>T (LHCGR)	XP_011531134.1:p.Glu13Asp
XM_011532833.1:c.39G>T (LHCGR)	XP_011531135.1:p.Glu13Asp
XM_011532834.1:c.12G>T (LHCGR)	XP_011531136.1:p.Glu4Asp
XM_005264309.3:c.12G>T (LHCGR)	XP_005264366.1:p.Glu4Asp
XM_006712015.3:c.39G>T (LHCGR)	XP_006712078.1:p.Glu13Asp
XM_011532834.2:c.12G>T (LHCGR)	XP_011531136.1:p.Glu4Asp
XM_017004089.1:c.714G>T (LHCGR)	XP_016859578.1:p.Glu238Asp
XM_017004090.1:c.333G>T (LHCGR)	XP_016859579.1:p.Glu111Asp
NM_000233.4:c.969G>T (LHCGR) MANE Select	NP_000224.2:p.Glu323Asp
NM_001198593.2:c.3441+17148C>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+17148C>A