Canonical Allele Identifier: CA346744331

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1679984557
• MyVariant Identifiers: chr2:g.48915111C>G (hg19) ; chr2:g.48687972C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687972C>G , CM000664.2:g.48687972C>G	GRCh38
NC_000002.11:g.48915111C>G , CM000664.1:g.48915111C>G	GRCh37
NC_000002.10:g.48768615C>G	NCBI36
NG_008193.1:g.72770G>C
NG_033050.1:g.163048C>G
NG_008193.2:g.72770G>C
NG_033050.2:g.163048C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.1825G>C (LHCGR) MANE Select	ENSP00000294954.6:p.Val609Leu
ENST00000294954.11:c.1825G>C (LHCGR)	ENSP00000294954.6:p.Val609Leu
ENST00000401907.5:c.*137G>C (LHCGR)	ENSP00000385406.1:n.*137G>C
ENST00000402114.6:c.3441+16292C>G (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16292C>G
ENST00000403273.5:c.*569G>C (LHCGR)	ENSP00000385847.1:n.*569G>C
ENST00000405626.5:c.1744G>C (LHCGR)	ENSP00000386033.1:p.Val582Leu
ENST00000508440.1:c.276+16292C>G (GTF2A1L)	ENSP00000421474.1:n.276+16292C>G
ENST00000602369.3:c.*220+6252G>C	ENSP00000473498.1:n.*220+6252G>C
NM_000233.3:c.1825G>C (LHCGR)	NP_000224.2:p.Val609Leu
NM_001198593.1:c.3441+16292C>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+16292C>G
XM_005264309.2:c.868G>C (LHCGR)	XP_005264366.1:p.Val290Leu
XM_006712015.2:c.895G>C (LHCGR)	XP_006712078.1:p.Val299Leu
XM_011532828.1:c.1750G>C (LHCGR)	XP_011531130.1:p.Val584Leu
XM_011532829.1:c.1564G>C (LHCGR)	XP_011531131.1:p.Val522Leu
XM_011532830.1:c.1483G>C (LHCGR)	XP_011531132.1:p.Val495Leu
XM_011532831.1:c.1189G>C (LHCGR)	XP_011531133.1:p.Val397Leu
XM_011532832.1:c.895G>C (LHCGR)	XP_011531134.1:p.Val299Leu
XM_011532833.1:c.895G>C (LHCGR)	XP_011531135.1:p.Val299Leu
XM_011532834.1:c.868G>C (LHCGR)	XP_011531136.1:p.Val290Leu
XM_005264309.3:c.868G>C (LHCGR)	XP_005264366.1:p.Val290Leu
XM_006712015.3:c.895G>C (LHCGR)	XP_006712078.1:p.Val299Leu
XM_011532834.2:c.868G>C (LHCGR)	XP_011531136.1:p.Val290Leu
XM_017004089.1:c.1570G>C (LHCGR)	XP_016859578.1:p.Val524Leu
XM_017004090.1:c.1189G>C (LHCGR)	XP_016859579.1:p.Val397Leu
NM_000233.4:c.1825G>C (LHCGR) MANE Select	NP_000224.2:p.Val609Leu
NM_001198593.2:c.3441+16292C>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+16292C>G