Canonical Allele Identifier: CA346745597

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• MyVariant Identifiers: chr2:g.48915292T>A (hg19) ; chr2:g.48688153T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688153T>A , CM000664.2:g.48688153T>A	GRCh38
NC_000002.11:g.48915292T>A , CM000664.1:g.48915292T>A	GRCh37
NC_000002.10:g.48768796T>A	NCBI36
NG_008193.1:g.72589A>T
NG_033050.1:g.163229T>A
NG_008193.2:g.72589A>T
NG_033050.2:g.163229T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1644A>T (LHCGR) MANE Select	ENSP00000294954.6:p.Lys548Asn
ENST00000294954.11:c.1644A>T (LHCGR)	ENSP00000294954.6:p.Lys548Asn
ENST00000401907.5:c.948-14A>T (LHCGR)	ENSP00000385406.1:n.948-14A>T
ENST00000402114.6:c.3441+16473T>A (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16473T>A
ENST00000403273.5:c.*388A>T (LHCGR)	ENSP00000385847.1:n.*388A>T
ENST00000405626.5:c.1563A>T (LHCGR)	ENSP00000386033.1:p.Lys521Asn
ENST00000508440.1:c.276+16473T>A (GTF2A1L)	ENSP00000421474.1:n.276+16473T>A
ENST00000602369.3:c.*220+6071A>T	ENSP00000473498.1:n.*220+6071A>T
NM_000233.3:c.1644A>T (LHCGR)	NP_000224.2:p.Lys548Asn
NM_001198593.1:c.3441+16473T>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+16473T>A
XM_005264309.2:c.687A>T (LHCGR)	XP_005264366.1:p.Lys229Asn
XM_006712015.2:c.714A>T (LHCGR)	XP_006712078.1:p.Lys238Asn
XM_011532828.1:c.1569A>T (LHCGR)	XP_011531130.1:p.Lys523Asn
XM_011532829.1:c.1383A>T (LHCGR)	XP_011531131.1:p.Lys461Asn
XM_011532830.1:c.1302A>T (LHCGR)	XP_011531132.1:p.Lys434Asn
XM_011532831.1:c.1008A>T (LHCGR)	XP_011531133.1:p.Lys336Asn
XM_011532832.1:c.714A>T (LHCGR)	XP_011531134.1:p.Lys238Asn
XM_011532833.1:c.714A>T (LHCGR)	XP_011531135.1:p.Lys238Asn
XM_011532834.1:c.687A>T (LHCGR)	XP_011531136.1:p.Lys229Asn
XM_005264309.3:c.687A>T (LHCGR)	XP_005264366.1:p.Lys229Asn
XM_006712015.3:c.714A>T (LHCGR)	XP_006712078.1:p.Lys238Asn
XM_011532834.2:c.687A>T (LHCGR)	XP_011531136.1:p.Lys229Asn
XM_017004089.1:c.1389A>T (LHCGR)	XP_016859578.1:p.Lys463Asn
XM_017004090.1:c.1008A>T (LHCGR)	XP_016859579.1:p.Lys336Asn
NM_000233.4:c.1644A>T (LHCGR) MANE Select	NP_000224.2:p.Lys548Asn
NM_001198593.2:c.3441+16473T>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+16473T>A