Canonical Allele Identifier: CA346745724

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs375277211
• MyVariant Identifiers: chr2:g.48915308C>A (hg19) ; chr2:g.48688169C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688169C>A , CM000664.2:g.48688169C>A	GRCh38
NC_000002.11:g.48915308C>A , CM000664.1:g.48915308C>A	GRCh37
NC_000002.10:g.48768812C>A	NCBI36
NG_008193.1:g.72573G>T
NG_033050.1:g.163245C>A
NG_008193.2:g.72573G>T
NG_033050.2:g.163245C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1628G>T (LHCGR) MANE Select	ENSP00000294954.6:p.Cys543Phe
ENST00000294954.11:c.1628G>T (LHCGR)	ENSP00000294954.6:p.Cys543Phe
ENST00000401907.5:c.948-30G>T (LHCGR)	ENSP00000385406.1:n.948-30G>T
ENST00000402114.6:c.3441+16489C>A (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16489C>A
ENST00000403273.5:c.*372G>T (LHCGR)	ENSP00000385847.1:n.*372G>T
ENST00000405626.5:c.1547G>T (LHCGR)	ENSP00000386033.1:p.Cys516Phe
ENST00000508440.1:c.276+16489C>A (GTF2A1L)	ENSP00000421474.1:n.276+16489C>A
ENST00000602369.3:c.*220+6055G>T	ENSP00000473498.1:n.*220+6055G>T
NM_000233.3:c.1628G>T (LHCGR)	NP_000224.2:p.Cys543Phe
NM_001198593.1:c.3441+16489C>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+16489C>A
XM_005264309.2:c.671G>T (LHCGR)	XP_005264366.1:p.Cys224Phe
XM_006712015.2:c.698G>T (LHCGR)	XP_006712078.1:p.Cys233Phe
XM_011532828.1:c.1553G>T (LHCGR)	XP_011531130.1:p.Cys518Phe
XM_011532829.1:c.1367G>T (LHCGR)	XP_011531131.1:p.Cys456Phe
XM_011532830.1:c.1286G>T (LHCGR)	XP_011531132.1:p.Cys429Phe
XM_011532831.1:c.992G>T (LHCGR)	XP_011531133.1:p.Cys331Phe
XM_011532832.1:c.698G>T (LHCGR)	XP_011531134.1:p.Cys233Phe
XM_011532833.1:c.698G>T (LHCGR)	XP_011531135.1:p.Cys233Phe
XM_011532834.1:c.671G>T (LHCGR)	XP_011531136.1:p.Cys224Phe
XM_005264309.3:c.671G>T (LHCGR)	XP_005264366.1:p.Cys224Phe
XM_006712015.3:c.698G>T (LHCGR)	XP_006712078.1:p.Cys233Phe
XM_011532834.2:c.671G>T (LHCGR)	XP_011531136.1:p.Cys224Phe
XM_017004089.1:c.1373G>T (LHCGR)	XP_016859578.1:p.Cys458Phe
XM_017004090.1:c.992G>T (LHCGR)	XP_016859579.1:p.Cys331Phe
NM_000233.4:c.1628G>T (LHCGR) MANE Select	NP_000224.2:p.Cys543Phe
NM_001198593.2:c.3441+16489C>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+16489C>A