Canonical Allele Identifier: CA346751441

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• gnomAD v4: 2-48694225-G-T
• COSMIC: COSM1021385
• MyVariant Identifiers: chr2:g.48921364G>T (hg19) ; chr2:g.48694225G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48694225G>T , CM000664.2:g.48694225G>T	GRCh38
NC_000002.11:g.48921364G>T , CM000664.1:g.48921364G>T	GRCh37
NC_000002.10:g.48774868G>T	NCBI36
NG_008193.1:g.66517C>A
NG_033050.1:g.169301G>T
NG_008193.2:g.66517C>A
NG_033050.2:g.169301G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.946C>A (LHCGR) MANE Select	ENSP00000294954.6:p.Leu316Ile
ENST00000294954.11:c.946C>A (LHCGR)	ENSP00000294954.6:p.Leu316Ile
ENST00000401907.5:c.946C>A (LHCGR)	ENSP00000385406.1:p.Leu316Ile
ENST00000402114.6:c.3441+22545G>T (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+22545G>T
ENST00000403273.5:c.946C>A (LHCGR)	ENSP00000385847.1:p.Leu316Ile
ENST00000405626.5:c.866+4390C>A (LHCGR)	ENSP00000386033.1:n.866+4390C>A
ENST00000508440.1:c.276+22545G>T (GTF2A1L)	ENSP00000421474.1:n.276+22545G>T
ENST00000602369.3:c.*219C>A	ENSP00000473498.1:n.*219C>A
NM_000233.3:c.946C>A (LHCGR)	NP_000224.2:p.Leu316Ile
NM_001198593.1:c.3441+22545G>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+22545G>T
XM_005264309.2:c.-11+16C>A (LHCGR)	XP_005264366.1:n.-11+16C>A
XM_011532828.1:c.871C>A (LHCGR)	XP_011531130.1:p.Leu291Ile
XM_011532829.1:c.685C>A (LHCGR)	XP_011531131.1:p.Leu229Ile
XM_011532830.1:c.606-5376C>A (LHCGR)	XP_011531132.1:n.606-5376C>A
XM_011532831.1:c.310C>A (LHCGR)	XP_011531133.1:p.Leu104Ile
XM_005264309.3:c.-11+16C>A (LHCGR)	XP_005264366.1:n.-11+16C>A
XM_017004089.1:c.691C>A (LHCGR)	XP_016859578.1:p.Leu231Ile
XM_017004090.1:c.310C>A (LHCGR)	XP_016859579.1:p.Leu104Ile
NM_000233.4:c.946C>A (LHCGR) MANE Select	NP_000224.2:p.Leu316Ile
NM_001198593.2:c.3441+22545G>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+22545G>T