Canonical Allele Identifier: CA1652960

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs750963963
• ExAC: 2:48914988 G / T
• gnomAD v2: 2-48914988-G-T
• gnomAD v4: 2-48687849-G-T
• MyVariant Identifiers: chr2:g.48914988G>T (hg19) ; chr2:g.48914988_48914989delinsTT (hg19) ; chr2:g.48687849G>T (hg38) ; chr2:g.48687849_48687850delinsTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687849G>T , CM000664.2:g.48687849G>T	GRCh38
NC_000002.11:g.48914988G>T , CM000664.1:g.48914988G>T	GRCh37
NC_000002.10:g.48768492G>T	NCBI36
NG_008193.1:g.72893C>A
NG_033050.1:g.162925G>T
NG_008193.2:g.72893C>A
NG_033050.2:g.162925G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1948C>A (LHCGR) MANE Select	ENSP00000294954.6:p.Leu650Ile
ENST00000294954.11:c.1948C>A (LHCGR)	ENSP00000294954.6:p.Leu650Ile
ENST00000401907.5:c.*260C>A (LHCGR)	ENSP00000385406.1:n.*260C>A
ENST00000402114.6:c.3441+16169G>T (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16169G>T
ENST00000403273.5:c.*692C>A (LHCGR)	ENSP00000385847.1:n.*692C>A
ENST00000405626.5:c.1867C>A (LHCGR)	ENSP00000386033.1:p.Leu623Ile
ENST00000508440.1:c.276+16169G>T (GTF2A1L)	ENSP00000421474.1:n.276+16169G>T
ENST00000602369.3:c.*220+6375C>A	ENSP00000473498.1:n.*220+6375C>A
NM_000233.3:c.1948C>A (LHCGR)	NP_000224.2:p.Leu650Ile
NM_001198593.1:c.3441+16169G>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+16169G>T
XM_005264309.2:c.991C>A (LHCGR)	XP_005264366.1:p.Leu331Ile
XM_006712015.2:c.1018C>A (LHCGR)	XP_006712078.1:p.Leu340Ile
XM_011532828.1:c.1873C>A (LHCGR)	XP_011531130.1:p.Leu625Ile
XM_011532829.1:c.1687C>A (LHCGR)	XP_011531131.1:p.Leu563Ile
XM_011532830.1:c.1606C>A (LHCGR)	XP_011531132.1:p.Leu536Ile
XM_011532831.1:c.1312C>A (LHCGR)	XP_011531133.1:p.Leu438Ile
XM_011532832.1:c.1018C>A (LHCGR)	XP_011531134.1:p.Leu340Ile
XM_011532833.1:c.1018C>A (LHCGR)	XP_011531135.1:p.Leu340Ile
XM_011532834.1:c.991C>A (LHCGR)	XP_011531136.1:p.Leu331Ile
XM_005264309.3:c.991C>A (LHCGR)	XP_005264366.1:p.Leu331Ile
XM_006712015.3:c.1018C>A (LHCGR)	XP_006712078.1:p.Leu340Ile
XM_011532834.2:c.991C>A (LHCGR)	XP_011531136.1:p.Leu331Ile
XM_017004089.1:c.1693C>A (LHCGR)	XP_016859578.1:p.Leu565Ile
XM_017004090.1:c.1312C>A (LHCGR)	XP_016859579.1:p.Leu438Ile
NM_000233.4:c.1948C>A (LHCGR) MANE Select	NP_000224.2:p.Leu650Ile
NM_001198593.2:c.3441+16169G>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+16169G>T