Canonical Allele Identifier: CA346747091

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• MyVariant Identifiers: chr2:g.48915539T>G (hg19) ; chr2:g.48688400T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688400T>G , CM000664.2:g.48688400T>G	GRCh38
NC_000002.11:g.48915539T>G , CM000664.1:g.48915539T>G	GRCh37
NC_000002.10:g.48769043T>G	NCBI36
NG_008193.1:g.72342A>C
NG_033050.1:g.163476T>G
NG_008193.2:g.72342A>C
NG_033050.2:g.163476T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1397A>C (LHCGR) MANE Select	ENSP00000294954.6:p.His466Pro
ENST00000294954.11:c.1397A>C (LHCGR)	ENSP00000294954.6:p.His466Pro
ENST00000401907.5:c.948-261A>C (LHCGR)	ENSP00000385406.1:n.948-261A>C
ENST00000402114.6:c.3441+16720T>G (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16720T>G
ENST00000403273.5:c.*141A>C (LHCGR)	ENSP00000385847.1:n.*141A>C
ENST00000405626.5:c.1316A>C (LHCGR)	ENSP00000386033.1:p.His439Pro
ENST00000508440.1:c.276+16720T>G (GTF2A1L)	ENSP00000421474.1:n.276+16720T>G
ENST00000602369.3:c.*220+5824A>C	ENSP00000473498.1:n.*220+5824A>C
NM_000233.3:c.1397A>C (LHCGR)	NP_000224.2:p.His466Pro
NM_001198593.1:c.3441+16720T>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+16720T>G
XM_005264309.2:c.440A>C (LHCGR)	XP_005264366.1:p.His147Pro
XM_006712015.2:c.467A>C (LHCGR)	XP_006712078.1:p.His156Pro
XM_011532828.1:c.1322A>C (LHCGR)	XP_011531130.1:p.His441Pro
XM_011532829.1:c.1136A>C (LHCGR)	XP_011531131.1:p.His379Pro
XM_011532830.1:c.1055A>C (LHCGR)	XP_011531132.1:p.His352Pro
XM_011532831.1:c.761A>C (LHCGR)	XP_011531133.1:p.His254Pro
XM_011532832.1:c.467A>C (LHCGR)	XP_011531134.1:p.His156Pro
XM_011532833.1:c.467A>C (LHCGR)	XP_011531135.1:p.His156Pro
XM_011532834.1:c.440A>C (LHCGR)	XP_011531136.1:p.His147Pro
XM_005264309.3:c.440A>C (LHCGR)	XP_005264366.1:p.His147Pro
XM_006712015.3:c.467A>C (LHCGR)	XP_006712078.1:p.His156Pro
XM_011532834.2:c.440A>C (LHCGR)	XP_011531136.1:p.His147Pro
XM_017004089.1:c.1142A>C (LHCGR)	XP_016859578.1:p.His381Pro
XM_017004090.1:c.761A>C (LHCGR)	XP_016859579.1:p.His254Pro
NM_000233.4:c.1397A>C (LHCGR) MANE Select	NP_000224.2:p.His466Pro
NM_001198593.2:c.3441+16720T>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+16720T>G