Canonical Allele Identifier: CA346745709

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• MyVariant Identifiers: chr2:g.48915306C>A (hg19) ; chr2:g.48688167C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688167C>A , CM000664.2:g.48688167C>A	GRCh38
NC_000002.11:g.48915306C>A , CM000664.1:g.48915306C>A	GRCh37
NC_000002.10:g.48768810C>A	NCBI36
NG_008193.1:g.72575G>T
NG_033050.1:g.163243C>A
NG_008193.2:g.72575G>T
NG_033050.2:g.163243C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1630G>T (LHCGR) MANE Select	ENSP00000294954.6:p.Ala544Ser
ENST00000294954.11:c.1630G>T (LHCGR)	ENSP00000294954.6:p.Ala544Ser
ENST00000401907.5:c.948-28G>T (LHCGR)	ENSP00000385406.1:n.948-28G>T
ENST00000402114.6:c.3441+16487C>A (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16487C>A
ENST00000403273.5:c.*374G>T (LHCGR)	ENSP00000385847.1:n.*374G>T
ENST00000405626.5:c.1549G>T (LHCGR)	ENSP00000386033.1:p.Ala517Ser
ENST00000508440.1:c.276+16487C>A (GTF2A1L)	ENSP00000421474.1:n.276+16487C>A
ENST00000602369.3:c.*220+6057G>T	ENSP00000473498.1:n.*220+6057G>T
NM_000233.3:c.1630G>T (LHCGR)	NP_000224.2:p.Ala544Ser
NM_001198593.1:c.3441+16487C>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+16487C>A
XM_005264309.2:c.673G>T (LHCGR)	XP_005264366.1:p.Ala225Ser
XM_006712015.2:c.700G>T (LHCGR)	XP_006712078.1:p.Ala234Ser
XM_011532828.1:c.1555G>T (LHCGR)	XP_011531130.1:p.Ala519Ser
XM_011532829.1:c.1369G>T (LHCGR)	XP_011531131.1:p.Ala457Ser
XM_011532830.1:c.1288G>T (LHCGR)	XP_011531132.1:p.Ala430Ser
XM_011532831.1:c.994G>T (LHCGR)	XP_011531133.1:p.Ala332Ser
XM_011532832.1:c.700G>T (LHCGR)	XP_011531134.1:p.Ala234Ser
XM_011532833.1:c.700G>T (LHCGR)	XP_011531135.1:p.Ala234Ser
XM_011532834.1:c.673G>T (LHCGR)	XP_011531136.1:p.Ala225Ser
XM_005264309.3:c.673G>T (LHCGR)	XP_005264366.1:p.Ala225Ser
XM_006712015.3:c.700G>T (LHCGR)	XP_006712078.1:p.Ala234Ser
XM_011532834.2:c.673G>T (LHCGR)	XP_011531136.1:p.Ala225Ser
XM_017004089.1:c.1375G>T (LHCGR)	XP_016859578.1:p.Ala459Ser
XM_017004090.1:c.994G>T (LHCGR)	XP_016859579.1:p.Ala332Ser
NM_000233.4:c.1630G>T (LHCGR) MANE Select	NP_000224.2:p.Ala544Ser
NM_001198593.2:c.3441+16487C>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+16487C>A