Canonical Allele Identifier: CA346750484

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• MyVariant Identifiers: chr2:g.48915976C>G (hg19) ; chr2:g.48688837C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688837C>G , CM000664.2:g.48688837C>G	GRCh38
NC_000002.11:g.48915976C>G , CM000664.1:g.48915976C>G	GRCh37
NC_000002.10:g.48769480C>G	NCBI36
NG_008193.1:g.71905G>C
NG_033050.1:g.163913C>G
NG_008193.2:g.71905G>C
NG_033050.2:g.163913C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.960G>C (LHCGR) MANE Select	ENSP00000294954.6:p.Met320Ile
ENST00000294954.11:c.960G>C (LHCGR)	ENSP00000294954.6:p.Met320Ile
ENST00000401907.5:c.948-698G>C (LHCGR)	ENSP00000385406.1:n.948-698G>C
ENST00000402114.6:c.3441+17157C>G (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+17157C>G
ENST00000403273.5:c.948-254G>C (LHCGR)	ENSP00000385847.1:n.948-254G>C
ENST00000405626.5:c.879G>C (LHCGR)	ENSP00000386033.1:p.Met293Ile
ENST00000508440.1:c.276+17157C>G (GTF2A1L)	ENSP00000421474.1:n.276+17157C>G
ENST00000602369.3:c.*220+5387G>C	ENSP00000473498.1:n.*220+5387G>C
NM_000233.3:c.960G>C (LHCGR)	NP_000224.2:p.Met320Ile
NM_001198593.1:c.3441+17157C>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+17157C>G
XM_005264309.2:c.3G>C (LHCGR)	XP_005264366.1:p.Met1Ile
XM_006712015.2:c.30G>C (LHCGR)	XP_006712078.1:p.Met10Ile
XM_011532828.1:c.885G>C (LHCGR)	XP_011531130.1:p.Met295Ile
XM_011532829.1:c.699G>C (LHCGR)	XP_011531131.1:p.Met233Ile
XM_011532830.1:c.618G>C (LHCGR)	XP_011531132.1:p.Met206Ile
XM_011532831.1:c.324G>C (LHCGR)	XP_011531133.1:p.Met108Ile
XM_011532832.1:c.30G>C (LHCGR)	XP_011531134.1:p.Met10Ile
XM_011532833.1:c.30G>C (LHCGR)	XP_011531135.1:p.Met10Ile
XM_011532834.1:c.3G>C (LHCGR)	XP_011531136.1:p.Met1Ile
XM_005264309.3:c.3G>C (LHCGR)	XP_005264366.1:p.Met1Ile
XM_006712015.3:c.30G>C (LHCGR)	XP_006712078.1:p.Met10Ile
XM_011532834.2:c.3G>C (LHCGR)	XP_011531136.1:p.Met1Ile
XM_017004089.1:c.705G>C (LHCGR)	XP_016859578.1:p.Met235Ile
XM_017004090.1:c.324G>C (LHCGR)	XP_016859579.1:p.Met108Ile
NM_000233.4:c.960G>C (LHCGR) MANE Select	NP_000224.2:p.Met320Ile
NM_001198593.2:c.3441+17157C>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+17157C>G