Canonical Allele Identifier: CA346749078

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• MyVariant Identifiers: chr2:g.48915780T>A (hg19) ; chr2:g.48688641T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688641T>A , CM000664.2:g.48688641T>A	GRCh38
NC_000002.11:g.48915780T>A , CM000664.1:g.48915780T>A	GRCh37
NC_000002.10:g.48769284T>A	NCBI36
NG_008193.1:g.72101A>T
NG_033050.1:g.163717T>A
NG_008193.2:g.72101A>T
NG_033050.2:g.163717T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.1156A>T (LHCGR) MANE Select	ENSP00000294954.6:p.Thr386Ser
ENST00000294954.11:c.1156A>T (LHCGR)	ENSP00000294954.6:p.Thr386Ser
ENST00000401907.5:c.948-502A>T (LHCGR)	ENSP00000385406.1:n.948-502A>T
ENST00000402114.6:c.3441+16961T>A (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16961T>A
ENST00000403273.5:c.948-58A>T (LHCGR)	ENSP00000385847.1:n.948-58A>T
ENST00000405626.5:c.1075A>T (LHCGR)	ENSP00000386033.1:p.Thr359Ser
ENST00000508440.1:c.276+16961T>A (GTF2A1L)	ENSP00000421474.1:n.276+16961T>A
ENST00000602369.3:c.*220+5583A>T	ENSP00000473498.1:n.*220+5583A>T
NM_000233.3:c.1156A>T (LHCGR)	NP_000224.2:p.Thr386Ser
NM_001198593.1:c.3441+16961T>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+16961T>A
XM_005264309.2:c.199A>T (LHCGR)	XP_005264366.1:p.Thr67Ser
XM_006712015.2:c.226A>T (LHCGR)	XP_006712078.1:p.Thr76Ser
XM_011532828.1:c.1081A>T (LHCGR)	XP_011531130.1:p.Thr361Ser
XM_011532829.1:c.895A>T (LHCGR)	XP_011531131.1:p.Thr299Ser
XM_011532830.1:c.814A>T (LHCGR)	XP_011531132.1:p.Thr272Ser
XM_011532831.1:c.520A>T (LHCGR)	XP_011531133.1:p.Thr174Ser
XM_011532832.1:c.226A>T (LHCGR)	XP_011531134.1:p.Thr76Ser
XM_011532833.1:c.226A>T (LHCGR)	XP_011531135.1:p.Thr76Ser
XM_011532834.1:c.199A>T (LHCGR)	XP_011531136.1:p.Thr67Ser
XM_005264309.3:c.199A>T (LHCGR)	XP_005264366.1:p.Thr67Ser
XM_006712015.3:c.226A>T (LHCGR)	XP_006712078.1:p.Thr76Ser
XM_011532834.2:c.199A>T (LHCGR)	XP_011531136.1:p.Thr67Ser
XM_017004089.1:c.901A>T (LHCGR)	XP_016859578.1:p.Thr301Ser
XM_017004090.1:c.520A>T (LHCGR)	XP_016859579.1:p.Thr174Ser
NM_000233.4:c.1156A>T (LHCGR) MANE Select	NP_000224.2:p.Thr386Ser
NM_001198593.2:c.3441+16961T>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+16961T>A