Canonical Allele Identifier: CA291927

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48694299T>C , CM000664.2:g.48694299T>C	GRCh38
NC_000002.11:g.48921438T>C , CM000664.1:g.48921438T>C	GRCh37
NC_000002.10:g.48774942T>C	NCBI36
NG_008193.1:g.66443A>G
NG_033050.1:g.169375T>C
NG_008193.2:g.66443A>G
NG_033050.2:g.169375T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000233.4:c.872A>G (LHCGR) MANE Select	NP_000224.2:p.Asn291Ser
ENST00000294954.12:c.872A>G (LHCGR) MANE Select	ENSP00000294954.6:p.Asn291Ser
NM_000233.3:c.872A>G (LHCGR)	NP_000224.2:p.Asn291Ser
NM_001198593.1:c.3441+22619T>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+22619T>C
NM_001198593.2:c.3441+22619T>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+22619T>C
ENST00000294954.11:c.872A>G (LHCGR)	ENSP00000294954.6:p.Asn291Ser
ENST00000401907.5:c.872A>G (LHCGR)	ENSP00000385406.1:p.Asn291Ser
ENST00000402114.6:c.3441+22619T>C (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+22619T>C
ENST00000403273.5:c.872A>G (LHCGR)	ENSP00000385847.1:p.Asn291Ser
ENST00000405626.5:c.866+4316A>G (LHCGR)	ENSP00000386033.1:n.866+4316A>G
ENST00000508440.1:c.276+22619T>C (GTF2A1L)	ENSP00000421474.1:n.276+22619T>C
ENST00000602369.3:c.*145A>G	ENSP00000473498.1:n.*145A>G
XM_005264309.2:c.-69A>G (LHCGR)	XP_005264366.1:n.-69A>G
XM_005264309.3:c.-69A>G (LHCGR)	XP_005264366.1:n.-69A>G
XM_011532828.1:c.797A>G (LHCGR)	XP_011531130.1:p.Asn266Ser
XM_011532829.1:c.611A>G (LHCGR)	XP_011531131.1:p.Asn204Ser
XM_011532830.1:c.606-5450A>G (LHCGR)	XP_011531132.1:n.606-5450A>G
XM_011532831.1:c.236A>G (LHCGR)	XP_011531133.1:p.Asn79Ser
XM_017004089.1:c.617A>G (LHCGR)	XP_016859578.1:p.Asn206Ser
XM_017004090.1:c.236A>G (LHCGR)	XP_016859579.1:p.Asn79Ser