Canonical Allele Identifier: CA346750521

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• MyVariant Identifiers: chr2:g.48915983G>T (hg19) ; chr2:g.48688844G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688844G>T , CM000664.2:g.48688844G>T	GRCh38
NC_000002.11:g.48915983G>T , CM000664.1:g.48915983G>T	GRCh37
NC_000002.10:g.48769487G>T	NCBI36
NG_008193.1:g.71898C>A
NG_033050.1:g.163920G>T
NG_008193.2:g.71898C>A
NG_033050.2:g.163920G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.953C>A (LHCGR) MANE Select	ENSP00000294954.6:p.Ser318Tyr
ENST00000294954.11:c.953C>A (LHCGR)	ENSP00000294954.6:p.Ser318Tyr
ENST00000401907.5:c.948-705C>A (LHCGR)	ENSP00000385406.1:n.948-705C>A
ENST00000402114.6:c.3441+17164G>T (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+17164G>T
ENST00000403273.5:c.948-261C>A (LHCGR)	ENSP00000385847.1:n.948-261C>A
ENST00000405626.5:c.872C>A (LHCGR)	ENSP00000386033.1:p.Ser291Tyr
ENST00000508440.1:c.276+17164G>T (GTF2A1L)	ENSP00000421474.1:n.276+17164G>T
ENST00000602369.3:c.*220+5380C>A	ENSP00000473498.1:n.*220+5380C>A
NM_000233.3:c.953C>A (LHCGR)	NP_000224.2:p.Ser318Tyr
NM_001198593.1:c.3441+17164G>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+17164G>T
XM_005264309.2:c.-5C>A (LHCGR)	XP_005264366.1:n.-5C>A
XM_006712015.2:c.23C>A (LHCGR)	XP_006712078.1:p.Ser8Tyr
XM_011532828.1:c.878C>A (LHCGR)	XP_011531130.1:p.Ser293Tyr
XM_011532829.1:c.692C>A (LHCGR)	XP_011531131.1:p.Ser231Tyr
XM_011532830.1:c.611C>A (LHCGR)	XP_011531132.1:p.Ser204Tyr
XM_011532831.1:c.317C>A (LHCGR)	XP_011531133.1:p.Ser106Tyr
XM_011532832.1:c.23C>A (LHCGR)	XP_011531134.1:p.Ser8Tyr
XM_011532833.1:c.23C>A (LHCGR)	XP_011531135.1:p.Ser8Tyr
XM_011532834.1:c.-5C>A (LHCGR)	XP_011531136.1:n.-5C>A
XM_005264309.3:c.-5C>A (LHCGR)	XP_005264366.1:n.-5C>A
XM_006712015.3:c.23C>A (LHCGR)	XP_006712078.1:p.Ser8Tyr
XM_011532834.2:c.-5C>A (LHCGR)	XP_011531136.1:n.-5C>A
XM_017004089.1:c.698C>A (LHCGR)	XP_016859578.1:p.Ser233Tyr
XM_017004090.1:c.317C>A (LHCGR)	XP_016859579.1:p.Ser106Tyr
NM_000233.4:c.953C>A (LHCGR) MANE Select	NP_000224.2:p.Ser318Tyr
NM_001198593.2:c.3441+17164G>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+17164G>T