Canonical Allele Identifier: CA346750448

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• COSMIC: COSM124098
• MyVariant Identifiers: chr2:g.48915969C>T (hg19) ; chr2:g.48688830C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688830C>T , CM000664.2:g.48688830C>T	GRCh38
NC_000002.11:g.48915969C>T , CM000664.1:g.48915969C>T	GRCh37
NC_000002.10:g.48769473C>T	NCBI36
NG_008193.1:g.71912G>A
NG_033050.1:g.163906C>T
NG_008193.2:g.71912G>A
NG_033050.2:g.163906C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.967G>A (LHCGR) MANE Select	ENSP00000294954.6:p.Glu323Lys
ENST00000294954.11:c.967G>A (LHCGR)	ENSP00000294954.6:p.Glu323Lys
ENST00000401907.5:c.948-691G>A (LHCGR)	ENSP00000385406.1:n.948-691G>A
ENST00000402114.6:c.3441+17150C>T (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+17150C>T
ENST00000403273.5:c.948-247G>A (LHCGR)	ENSP00000385847.1:n.948-247G>A
ENST00000405626.5:c.886G>A (LHCGR)	ENSP00000386033.1:p.Glu296Lys
ENST00000508440.1:c.276+17150C>T (GTF2A1L)	ENSP00000421474.1:n.276+17150C>T
ENST00000602369.3:c.*220+5394G>A	ENSP00000473498.1:n.*220+5394G>A
NM_000233.3:c.967G>A (LHCGR)	NP_000224.2:p.Glu323Lys
NM_001198593.1:c.3441+17150C>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+17150C>T
XM_005264309.2:c.10G>A (LHCGR)	XP_005264366.1:p.Glu4Lys
XM_006712015.2:c.37G>A (LHCGR)	XP_006712078.1:p.Glu13Lys
XM_011532828.1:c.892G>A (LHCGR)	XP_011531130.1:p.Glu298Lys
XM_011532829.1:c.706G>A (LHCGR)	XP_011531131.1:p.Glu236Lys
XM_011532830.1:c.625G>A (LHCGR)	XP_011531132.1:p.Glu209Lys
XM_011532831.1:c.331G>A (LHCGR)	XP_011531133.1:p.Glu111Lys
XM_011532832.1:c.37G>A (LHCGR)	XP_011531134.1:p.Glu13Lys
XM_011532833.1:c.37G>A (LHCGR)	XP_011531135.1:p.Glu13Lys
XM_011532834.1:c.10G>A (LHCGR)	XP_011531136.1:p.Glu4Lys
XM_005264309.3:c.10G>A (LHCGR)	XP_005264366.1:p.Glu4Lys
XM_006712015.3:c.37G>A (LHCGR)	XP_006712078.1:p.Glu13Lys
XM_011532834.2:c.10G>A (LHCGR)	XP_011531136.1:p.Glu4Lys
XM_017004089.1:c.712G>A (LHCGR)	XP_016859578.1:p.Glu238Lys
XM_017004090.1:c.331G>A (LHCGR)	XP_016859579.1:p.Glu111Lys
NM_000233.4:c.967G>A (LHCGR) MANE Select	NP_000224.2:p.Glu323Lys
NM_001198593.2:c.3441+17150C>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+17150C>T