Canonical Allele Identifier: CA346746864

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• MyVariant Identifiers: chr2:g.48915475C>T (hg19) ; chr2:g.48688336C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688336C>T , CM000664.2:g.48688336C>T	GRCh38
NC_000002.11:g.48915475C>T , CM000664.1:g.48915475C>T	GRCh37
NC_000002.10:g.48768979C>T	NCBI36
NG_008193.1:g.72406G>A
NG_033050.1:g.163412C>T
NG_008193.2:g.72406G>A
NG_033050.2:g.163412C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.1461G>A (LHCGR) MANE Select	ENSP00000294954.6:p.Met487Ile
ENST00000294954.11:c.1461G>A (LHCGR)	ENSP00000294954.6:p.Met487Ile
ENST00000401907.5:c.948-197G>A (LHCGR)	ENSP00000385406.1:n.948-197G>A
ENST00000402114.6:c.3441+16656C>T (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16656C>T
ENST00000403273.5:c.*205G>A (LHCGR)	ENSP00000385847.1:n.*205G>A
ENST00000405626.5:c.1380G>A (LHCGR)	ENSP00000386033.1:p.Met460Ile
ENST00000508440.1:c.276+16656C>T (GTF2A1L)	ENSP00000421474.1:n.276+16656C>T
ENST00000602369.3:c.*220+5888G>A	ENSP00000473498.1:n.*220+5888G>A
NM_000233.3:c.1461G>A (LHCGR)	NP_000224.2:p.Met487Ile
NM_001198593.1:c.3441+16656C>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+16656C>T
XM_005264309.2:c.504G>A (LHCGR)	XP_005264366.1:p.Met168Ile
XM_006712015.2:c.531G>A (LHCGR)	XP_006712078.1:p.Met177Ile
XM_011532828.1:c.1386G>A (LHCGR)	XP_011531130.1:p.Met462Ile
XM_011532829.1:c.1200G>A (LHCGR)	XP_011531131.1:p.Met400Ile
XM_011532830.1:c.1119G>A (LHCGR)	XP_011531132.1:p.Met373Ile
XM_011532831.1:c.825G>A (LHCGR)	XP_011531133.1:p.Met275Ile
XM_011532832.1:c.531G>A (LHCGR)	XP_011531134.1:p.Met177Ile
XM_011532833.1:c.531G>A (LHCGR)	XP_011531135.1:p.Met177Ile
XM_011532834.1:c.504G>A (LHCGR)	XP_011531136.1:p.Met168Ile
XM_005264309.3:c.504G>A (LHCGR)	XP_005264366.1:p.Met168Ile
XM_006712015.3:c.531G>A (LHCGR)	XP_006712078.1:p.Met177Ile
XM_011532834.2:c.504G>A (LHCGR)	XP_011531136.1:p.Met168Ile
XM_017004089.1:c.1206G>A (LHCGR)	XP_016859578.1:p.Met402Ile
XM_017004090.1:c.825G>A (LHCGR)	XP_016859579.1:p.Met275Ile
NM_000233.4:c.1461G>A (LHCGR) MANE Select	NP_000224.2:p.Met487Ile
NM_001198593.2:c.3441+16656C>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+16656C>T