Canonical Allele Identifier: CA346748515

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• MyVariant Identifiers: chr2:g.48915696G>T (hg19) ; chr2:g.48688557G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688557G>T , CM000664.2:g.48688557G>T	GRCh38
NC_000002.11:g.48915696G>T , CM000664.1:g.48915696G>T	GRCh37
NC_000002.10:g.48769200G>T	NCBI36
NG_008193.1:g.72185C>A
NG_033050.1:g.163633G>T
NG_008193.2:g.72185C>A
NG_033050.2:g.163633G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.1240C>A (LHCGR) MANE Select	ENSP00000294954.6:p.Leu414Ile
ENST00000294954.11:c.1240C>A (LHCGR)	ENSP00000294954.6:p.Leu414Ile
ENST00000401907.5:c.948-418C>A (LHCGR)	ENSP00000385406.1:n.948-418C>A
ENST00000402114.6:c.3441+16877G>T (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16877G>T
ENST00000403273.5:c.974C>A (LHCGR)	ENSP00000385847.1:p.Ala325Asp
ENST00000405626.5:c.1159C>A (LHCGR)	ENSP00000386033.1:p.Leu387Ile
ENST00000508440.1:c.276+16877G>T (GTF2A1L)	ENSP00000421474.1:n.276+16877G>T
ENST00000602369.3:c.*220+5667C>A	ENSP00000473498.1:n.*220+5667C>A
NM_000233.3:c.1240C>A (LHCGR)	NP_000224.2:p.Leu414Ile
NM_001198593.1:c.3441+16877G>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+16877G>T
XM_005264309.2:c.283C>A (LHCGR)	XP_005264366.1:p.Leu95Ile
XM_006712015.2:c.310C>A (LHCGR)	XP_006712078.1:p.Leu104Ile
XM_011532828.1:c.1165C>A (LHCGR)	XP_011531130.1:p.Leu389Ile
XM_011532829.1:c.979C>A (LHCGR)	XP_011531131.1:p.Leu327Ile
XM_011532830.1:c.898C>A (LHCGR)	XP_011531132.1:p.Leu300Ile
XM_011532831.1:c.604C>A (LHCGR)	XP_011531133.1:p.Leu202Ile
XM_011532832.1:c.310C>A (LHCGR)	XP_011531134.1:p.Leu104Ile
XM_011532833.1:c.310C>A (LHCGR)	XP_011531135.1:p.Leu104Ile
XM_011532834.1:c.283C>A (LHCGR)	XP_011531136.1:p.Leu95Ile
XM_005264309.3:c.283C>A (LHCGR)	XP_005264366.1:p.Leu95Ile
XM_006712015.3:c.310C>A (LHCGR)	XP_006712078.1:p.Leu104Ile
XM_011532834.2:c.283C>A (LHCGR)	XP_011531136.1:p.Leu95Ile
XM_017004089.1:c.985C>A (LHCGR)	XP_016859578.1:p.Leu329Ile
XM_017004090.1:c.604C>A (LHCGR)	XP_016859579.1:p.Leu202Ile
NM_000233.4:c.1240C>A (LHCGR) MANE Select	NP_000224.2:p.Leu414Ile
NM_001198593.2:c.3441+16877G>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+16877G>T