Canonical Allele Identifier: CA346746003

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• MyVariant Identifiers: chr2:g.48915344A>C (hg19) ; chr2:g.48688205A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688205A>C , CM000664.2:g.48688205A>C	GRCh38
NC_000002.11:g.48915344A>C , CM000664.1:g.48915344A>C	GRCh37
NC_000002.10:g.48768848A>C	NCBI36
NG_008193.1:g.72537T>G
NG_033050.1:g.163281A>C
NG_008193.2:g.72537T>G
NG_033050.2:g.163281A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1592T>G (LHCGR) MANE Select	ENSP00000294954.6:p.Ile531Ser
ENST00000294954.11:c.1592T>G (LHCGR)	ENSP00000294954.6:p.Ile531Ser
ENST00000401907.5:c.948-66T>G (LHCGR)	ENSP00000385406.1:n.948-66T>G
ENST00000402114.6:c.3441+16525A>C (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16525A>C
ENST00000403273.5:c.*336T>G (LHCGR)	ENSP00000385847.1:n.*336T>G
ENST00000405626.5:c.1511T>G (LHCGR)	ENSP00000386033.1:p.Ile504Ser
ENST00000508440.1:c.276+16525A>C (GTF2A1L)	ENSP00000421474.1:n.276+16525A>C
ENST00000602369.3:c.*220+6019T>G	ENSP00000473498.1:n.*220+6019T>G
NM_000233.3:c.1592T>G (LHCGR)	NP_000224.2:p.Ile531Ser
NM_001198593.1:c.3441+16525A>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16525A>C
XM_005264309.2:c.635T>G (LHCGR)	XP_005264366.1:p.Ile212Ser
XM_006712015.2:c.662T>G (LHCGR)	XP_006712078.1:p.Ile221Ser
XM_011532828.1:c.1517T>G (LHCGR)	XP_011531130.1:p.Ile506Ser
XM_011532829.1:c.1331T>G (LHCGR)	XP_011531131.1:p.Ile444Ser
XM_011532830.1:c.1250T>G (LHCGR)	XP_011531132.1:p.Ile417Ser
XM_011532831.1:c.956T>G (LHCGR)	XP_011531133.1:p.Ile319Ser
XM_011532832.1:c.662T>G (LHCGR)	XP_011531134.1:p.Ile221Ser
XM_011532833.1:c.662T>G (LHCGR)	XP_011531135.1:p.Ile221Ser
XM_011532834.1:c.635T>G (LHCGR)	XP_011531136.1:p.Ile212Ser
XM_005264309.3:c.635T>G (LHCGR)	XP_005264366.1:p.Ile212Ser
XM_006712015.3:c.662T>G (LHCGR)	XP_006712078.1:p.Ile221Ser
XM_011532834.2:c.635T>G (LHCGR)	XP_011531136.1:p.Ile212Ser
XM_017004089.1:c.1337T>G (LHCGR)	XP_016859578.1:p.Ile446Ser
XM_017004090.1:c.956T>G (LHCGR)	XP_016859579.1:p.Ile319Ser
NM_000233.4:c.1592T>G (LHCGR) MANE Select	NP_000224.2:p.Ile531Ser
NM_001198593.2:c.3441+16525A>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16525A>C