Canonical Allele Identifier: CA346743584

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• MyVariant Identifiers: chr2:g.48914983A>C (hg19) ; chr2:g.48687844A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687844A>C , CM000664.2:g.48687844A>C	GRCh38
NC_000002.11:g.48914983A>C , CM000664.1:g.48914983A>C	GRCh37
NC_000002.10:g.48768487A>C	NCBI36
NG_008193.1:g.72898T>G
NG_033050.1:g.162920A>C
NG_008193.2:g.72898T>G
NG_033050.2:g.162920A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1953T>G (LHCGR) MANE Select	ENSP00000294954.6:p.Tyr651Ter
ENST00000294954.11:c.1953T>G (LHCGR)	ENSP00000294954.6:p.Tyr651Ter
ENST00000401907.5:c.*265T>G (LHCGR)	ENSP00000385406.1:n.*265T>G
ENST00000402114.6:c.3441+16164A>C (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16164A>C
ENST00000403273.5:c.*697T>G (LHCGR)	ENSP00000385847.1:n.*697T>G
ENST00000405626.5:c.1872T>G (LHCGR)	ENSP00000386033.1:p.Tyr624Ter
ENST00000508440.1:c.276+16164A>C (GTF2A1L)	ENSP00000421474.1:n.276+16164A>C
ENST00000602369.3:c.*220+6380T>G	ENSP00000473498.1:n.*220+6380T>G
NM_000233.3:c.1953T>G (LHCGR)	NP_000224.2:p.Tyr651Ter
NM_001198593.1:c.3441+16164A>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16164A>C
XM_005264309.2:c.996T>G (LHCGR)	XP_005264366.1:p.Tyr332Ter
XM_006712015.2:c.1023T>G (LHCGR)	XP_006712078.1:p.Tyr341Ter
XM_011532828.1:c.1878T>G (LHCGR)	XP_011531130.1:p.Tyr626Ter
XM_011532829.1:c.1692T>G (LHCGR)	XP_011531131.1:p.Tyr564Ter
XM_011532830.1:c.1611T>G (LHCGR)	XP_011531132.1:p.Tyr537Ter
XM_011532831.1:c.1317T>G (LHCGR)	XP_011531133.1:p.Tyr439Ter
XM_011532832.1:c.1023T>G (LHCGR)	XP_011531134.1:p.Tyr341Ter
XM_011532833.1:c.1023T>G (LHCGR)	XP_011531135.1:p.Tyr341Ter
XM_011532834.1:c.996T>G (LHCGR)	XP_011531136.1:p.Tyr332Ter
XM_005264309.3:c.996T>G (LHCGR)	XP_005264366.1:p.Tyr332Ter
XM_006712015.3:c.1023T>G (LHCGR)	XP_006712078.1:p.Tyr341Ter
XM_011532834.2:c.996T>G (LHCGR)	XP_011531136.1:p.Tyr332Ter
XM_017004089.1:c.1698T>G (LHCGR)	XP_016859578.1:p.Tyr566Ter
XM_017004090.1:c.1317T>G (LHCGR)	XP_016859579.1:p.Tyr439Ter
NM_000233.4:c.1953T>G (LHCGR) MANE Select	NP_000224.2:p.Tyr651Ter
NM_001198593.2:c.3441+16164A>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16164A>C