Canonical Allele Identifier: CA346750440

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• MyVariant Identifiers: chr2:g.48915968T>G (hg19) ; chr2:g.48688829T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688829T>G , CM000664.2:g.48688829T>G	GRCh38
NC_000002.11:g.48915968T>G , CM000664.1:g.48915968T>G	GRCh37
NC_000002.10:g.48769472T>G	NCBI36
NG_008193.1:g.71913A>C
NG_033050.1:g.163905T>G
NG_008193.2:g.71913A>C
NG_033050.2:g.163905T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.968A>C (LHCGR) MANE Select	ENSP00000294954.6:p.Glu323Ala
ENST00000294954.11:c.968A>C (LHCGR)	ENSP00000294954.6:p.Glu323Ala
ENST00000401907.5:c.948-690A>C (LHCGR)	ENSP00000385406.1:n.948-690A>C
ENST00000402114.6:c.3441+17149T>G (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+17149T>G
ENST00000403273.5:c.948-246A>C (LHCGR)	ENSP00000385847.1:n.948-246A>C
ENST00000405626.5:c.887A>C (LHCGR)	ENSP00000386033.1:p.Glu296Ala
ENST00000508440.1:c.276+17149T>G (GTF2A1L)	ENSP00000421474.1:n.276+17149T>G
ENST00000602369.3:c.*220+5395A>C	ENSP00000473498.1:n.*220+5395A>C
NM_000233.3:c.968A>C (LHCGR)	NP_000224.2:p.Glu323Ala
NM_001198593.1:c.3441+17149T>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+17149T>G
XM_005264309.2:c.11A>C (LHCGR)	XP_005264366.1:p.Glu4Ala
XM_006712015.2:c.38A>C (LHCGR)	XP_006712078.1:p.Glu13Ala
XM_011532828.1:c.893A>C (LHCGR)	XP_011531130.1:p.Glu298Ala
XM_011532829.1:c.707A>C (LHCGR)	XP_011531131.1:p.Glu236Ala
XM_011532830.1:c.626A>C (LHCGR)	XP_011531132.1:p.Glu209Ala
XM_011532831.1:c.332A>C (LHCGR)	XP_011531133.1:p.Glu111Ala
XM_011532832.1:c.38A>C (LHCGR)	XP_011531134.1:p.Glu13Ala
XM_011532833.1:c.38A>C (LHCGR)	XP_011531135.1:p.Glu13Ala
XM_011532834.1:c.11A>C (LHCGR)	XP_011531136.1:p.Glu4Ala
XM_005264309.3:c.11A>C (LHCGR)	XP_005264366.1:p.Glu4Ala
XM_006712015.3:c.38A>C (LHCGR)	XP_006712078.1:p.Glu13Ala
XM_011532834.2:c.11A>C (LHCGR)	XP_011531136.1:p.Glu4Ala
XM_017004089.1:c.713A>C (LHCGR)	XP_016859578.1:p.Glu238Ala
XM_017004090.1:c.332A>C (LHCGR)	XP_016859579.1:p.Glu111Ala
NM_000233.4:c.968A>C (LHCGR) MANE Select	NP_000224.2:p.Glu323Ala
NM_001198593.2:c.3441+17149T>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+17149T>G