Canonical Allele Identifier: CA346744450

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• MyVariant Identifiers: chr2:g.48915135C>G (hg19) ; chr2:g.48687996C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687996C>G , CM000664.2:g.48687996C>G	GRCh38
NC_000002.11:g.48915135C>G , CM000664.1:g.48915135C>G	GRCh37
NC_000002.10:g.48768639C>G	NCBI36
NG_008193.1:g.72746G>C
NG_033050.1:g.163072C>G
NG_008193.2:g.72746G>C
NG_033050.2:g.163072C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.1801G>C (LHCGR) MANE Select	ENSP00000294954.6:p.Val601Leu
ENST00000294954.11:c.1801G>C (LHCGR)	ENSP00000294954.6:p.Val601Leu
ENST00000401907.5:c.*113G>C (LHCGR)	ENSP00000385406.1:n.*113G>C
ENST00000402114.6:c.3441+16316C>G (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16316C>G
ENST00000403273.5:c.*545G>C (LHCGR)	ENSP00000385847.1:n.*545G>C
ENST00000405626.5:c.1720G>C (LHCGR)	ENSP00000386033.1:p.Val574Leu
ENST00000508440.1:c.276+16316C>G (GTF2A1L)	ENSP00000421474.1:n.276+16316C>G
ENST00000602369.3:c.*220+6228G>C	ENSP00000473498.1:n.*220+6228G>C
NM_000233.3:c.1801G>C (LHCGR)	NP_000224.2:p.Val601Leu
NM_001198593.1:c.3441+16316C>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+16316C>G
XM_005264309.2:c.844G>C (LHCGR)	XP_005264366.1:p.Val282Leu
XM_006712015.2:c.871G>C (LHCGR)	XP_006712078.1:p.Val291Leu
XM_011532828.1:c.1726G>C (LHCGR)	XP_011531130.1:p.Val576Leu
XM_011532829.1:c.1540G>C (LHCGR)	XP_011531131.1:p.Val514Leu
XM_011532830.1:c.1459G>C (LHCGR)	XP_011531132.1:p.Val487Leu
XM_011532831.1:c.1165G>C (LHCGR)	XP_011531133.1:p.Val389Leu
XM_011532832.1:c.871G>C (LHCGR)	XP_011531134.1:p.Val291Leu
XM_011532833.1:c.871G>C (LHCGR)	XP_011531135.1:p.Val291Leu
XM_011532834.1:c.844G>C (LHCGR)	XP_011531136.1:p.Val282Leu
XM_005264309.3:c.844G>C (LHCGR)	XP_005264366.1:p.Val282Leu
XM_006712015.3:c.871G>C (LHCGR)	XP_006712078.1:p.Val291Leu
XM_011532834.2:c.844G>C (LHCGR)	XP_011531136.1:p.Val282Leu
XM_017004089.1:c.1546G>C (LHCGR)	XP_016859578.1:p.Val516Leu
XM_017004090.1:c.1165G>C (LHCGR)	XP_016859579.1:p.Val389Leu
NM_000233.4:c.1801G>C (LHCGR) MANE Select	NP_000224.2:p.Val601Leu
NM_001198593.2:c.3441+16316C>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+16316C>G