Canonical Allele Identifier: CA346745300
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688118G>A , CM000664.2:g.48688118G>A GRCh38
NC_000002.11:g.48915257G>A , CM000664.1:g.48915257G>A GRCh37
NC_000002.10:g.48768761G>A NCBI36
NG_008193.1:g.72624C>T
NG_033050.1:g.163194G>A
NG_008193.2:g.72624C>T
NG_033050.2:g.163194G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.1679C>T (LHCGR) MANE Select ENSP00000294954.6:p.Ala560Val
ENST00000294954.11:c.1679C>T (LHCGR) ENSP00000294954.6:p.Ala560Val
ENST00000401907.5:c.969C>T (LHCGR) ENSP00000385406.1:p.Gly323=
ENST00000402114.6:c.3441+16438G>A (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16438G>A
ENST00000403273.5:c.*423C>T (LHCGR) ENSP00000385847.1:n.*423C>T
ENST00000405626.5:c.1598C>T (LHCGR) ENSP00000386033.1:p.Ala533Val
ENST00000508440.1:c.276+16438G>A (GTF2A1L) ENSP00000421474.1:n.276+16438G>A
ENST00000602369.3:c.*220+6106C>T ENSP00000473498.1:n.*220+6106C>T
NM_000233.3:c.1679C>T (LHCGR) NP_000224.2:p.Ala560Val
NM_001198593.1:c.3441+16438G>A (STON1-GTF2A1L) NP_001185522.1:n.3441+16438G>A
XM_005264309.2:c.722C>T (LHCGR) XP_005264366.1:p.Ala241Val
XM_006712015.2:c.749C>T (LHCGR) XP_006712078.1:p.Ala250Val
XM_011532828.1:c.1604C>T (LHCGR) XP_011531130.1:p.Ala535Val
XM_011532829.1:c.1418C>T (LHCGR) XP_011531131.1:p.Ala473Val
XM_011532830.1:c.1337C>T (LHCGR) XP_011531132.1:p.Ala446Val
XM_011532831.1:c.1043C>T (LHCGR) XP_011531133.1:p.Ala348Val
XM_011532832.1:c.749C>T (LHCGR) XP_011531134.1:p.Ala250Val
XM_011532833.1:c.749C>T (LHCGR) XP_011531135.1:p.Ala250Val
XM_011532834.1:c.722C>T (LHCGR) XP_011531136.1:p.Ala241Val
XM_005264309.3:c.722C>T (LHCGR) XP_005264366.1:p.Ala241Val
XM_006712015.3:c.749C>T (LHCGR) XP_006712078.1:p.Ala250Val
XM_011532834.2:c.722C>T (LHCGR) XP_011531136.1:p.Ala241Val
XM_017004089.1:c.1424C>T (LHCGR) XP_016859578.1:p.Ala475Val
XM_017004090.1:c.1043C>T (LHCGR) XP_016859579.1:p.Ala348Val
NM_000233.4:c.1679C>T (LHCGR) MANE Select NP_000224.2:p.Ala560Val
NM_001198593.2:c.3441+16438G>A (STON1-GTF2A1L) NP_001185522.1:n.3441+16438G>A