Canonical Allele Identifier: CA346744240

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• MyVariant Identifiers: chr2:g.48915094G>C (hg19) ; chr2:g.48687955G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687955G>C , CM000664.2:g.48687955G>C	GRCh38
NC_000002.11:g.48915094G>C , CM000664.1:g.48915094G>C	GRCh37
NC_000002.10:g.48768598G>C	NCBI36
NG_008193.1:g.72787C>G
NG_033050.1:g.163031G>C
NG_008193.2:g.72787C>G
NG_033050.2:g.163031G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.1842C>G (LHCGR) MANE Select	ENSP00000294954.6:p.Ile614Met
ENST00000294954.11:c.1842C>G (LHCGR)	ENSP00000294954.6:p.Ile614Met
ENST00000401907.5:c.*154C>G (LHCGR)	ENSP00000385406.1:n.*154C>G
ENST00000402114.6:c.3441+16275G>C (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16275G>C
ENST00000403273.5:c.*586C>G (LHCGR)	ENSP00000385847.1:n.*586C>G
ENST00000405626.5:c.1761C>G (LHCGR)	ENSP00000386033.1:p.Ile587Met
ENST00000508440.1:c.276+16275G>C (GTF2A1L)	ENSP00000421474.1:n.276+16275G>C
ENST00000602369.3:c.*220+6269C>G	ENSP00000473498.1:n.*220+6269C>G
NM_000233.3:c.1842C>G (LHCGR)	NP_000224.2:p.Ile614Met
NM_001198593.1:c.3441+16275G>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16275G>C
XM_005264309.2:c.885C>G (LHCGR)	XP_005264366.1:p.Ile295Met
XM_006712015.2:c.912C>G (LHCGR)	XP_006712078.1:p.Ile304Met
XM_011532828.1:c.1767C>G (LHCGR)	XP_011531130.1:p.Ile589Met
XM_011532829.1:c.1581C>G (LHCGR)	XP_011531131.1:p.Ile527Met
XM_011532830.1:c.1500C>G (LHCGR)	XP_011531132.1:p.Ile500Met
XM_011532831.1:c.1206C>G (LHCGR)	XP_011531133.1:p.Ile402Met
XM_011532832.1:c.912C>G (LHCGR)	XP_011531134.1:p.Ile304Met
XM_011532833.1:c.912C>G (LHCGR)	XP_011531135.1:p.Ile304Met
XM_011532834.1:c.885C>G (LHCGR)	XP_011531136.1:p.Ile295Met
XM_005264309.3:c.885C>G (LHCGR)	XP_005264366.1:p.Ile295Met
XM_006712015.3:c.912C>G (LHCGR)	XP_006712078.1:p.Ile304Met
XM_011532834.2:c.885C>G (LHCGR)	XP_011531136.1:p.Ile295Met
XM_017004089.1:c.1587C>G (LHCGR)	XP_016859578.1:p.Ile529Met
XM_017004090.1:c.1206C>G (LHCGR)	XP_016859579.1:p.Ile402Met
NM_000233.4:c.1842C>G (LHCGR) MANE Select	NP_000224.2:p.Ile614Met
NM_001198593.2:c.3441+16275G>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16275G>C