Canonical Allele Identifier: CA346748471

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• MyVariant Identifiers: chr2:g.48915689G>T (hg19) ; chr2:g.48688550G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688550G>T , CM000664.2:g.48688550G>T	GRCh38
NC_000002.11:g.48915689G>T , CM000664.1:g.48915689G>T	GRCh37
NC_000002.10:g.48769193G>T	NCBI36
NG_008193.1:g.72192C>A
NG_033050.1:g.163626G>T
NG_008193.2:g.72192C>A
NG_033050.2:g.163626G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1247C>A (LHCGR) MANE Select	ENSP00000294954.6:p.Ala416Asp
ENST00000294954.11:c.1247C>A (LHCGR)	ENSP00000294954.6:p.Ala416Asp
ENST00000401907.5:c.948-411C>A (LHCGR)	ENSP00000385406.1:n.948-411C>A
ENST00000402114.6:c.3441+16870G>T (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16870G>T
ENST00000403273.5:c.981C>A (LHCGR)	ENSP00000385847.1:p.Ser327Arg
ENST00000405626.5:c.1166C>A (LHCGR)	ENSP00000386033.1:p.Ala389Asp
ENST00000508440.1:c.276+16870G>T (GTF2A1L)	ENSP00000421474.1:n.276+16870G>T
ENST00000602369.3:c.*220+5674C>A	ENSP00000473498.1:n.*220+5674C>A
NM_000233.3:c.1247C>A (LHCGR)	NP_000224.2:p.Ala416Asp
NM_001198593.1:c.3441+16870G>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+16870G>T
XM_005264309.2:c.290C>A (LHCGR)	XP_005264366.1:p.Ala97Asp
XM_006712015.2:c.317C>A (LHCGR)	XP_006712078.1:p.Ala106Asp
XM_011532828.1:c.1172C>A (LHCGR)	XP_011531130.1:p.Ala391Asp
XM_011532829.1:c.986C>A (LHCGR)	XP_011531131.1:p.Ala329Asp
XM_011532830.1:c.905C>A (LHCGR)	XP_011531132.1:p.Ala302Asp
XM_011532831.1:c.611C>A (LHCGR)	XP_011531133.1:p.Ala204Asp
XM_011532832.1:c.317C>A (LHCGR)	XP_011531134.1:p.Ala106Asp
XM_011532833.1:c.317C>A (LHCGR)	XP_011531135.1:p.Ala106Asp
XM_011532834.1:c.290C>A (LHCGR)	XP_011531136.1:p.Ala97Asp
XM_005264309.3:c.290C>A (LHCGR)	XP_005264366.1:p.Ala97Asp
XM_006712015.3:c.317C>A (LHCGR)	XP_006712078.1:p.Ala106Asp
XM_011532834.2:c.290C>A (LHCGR)	XP_011531136.1:p.Ala97Asp
XM_017004089.1:c.992C>A (LHCGR)	XP_016859578.1:p.Ala331Asp
XM_017004090.1:c.611C>A (LHCGR)	XP_016859579.1:p.Ala204Asp
NM_000233.4:c.1247C>A (LHCGR) MANE Select	NP_000224.2:p.Ala416Asp
NM_001198593.2:c.3441+16870G>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+16870G>T