Canonical Allele Identifier: CA442140370

Gene: RXFP1

Linked Data

• dbSNP Id: rs1224867291
• gnomAD v4: 4-158645110-G-C
• MyVariant Identifiers: chr4:g.159566262G>C (hg19) ; chr4:g.158645110G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158645110G>C , CM000666.2:g.158645110G>C	GRCh38
NC_000004.11:g.159566262G>C , CM000666.1:g.159566262G>C	GRCh37
NC_000004.10:g.159785712G>C	NCBI36
NG_031835.1:g.128397G>C
NG_031835.2:g.128397G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307765.10:c.1317G>C MANE Select	ENSP00000303248.5:p.Leu439=
ENST00000307765.9:c.1317G>C	ENSP00000303248.5:p.Leu439=
ENST00000342048.9:c.*927G>C	ENSP00000432036.1:n.*927G>C
ENST00000343542.9:c.1173G>C	ENSP00000345889.5:p.Leu391=
ENST00000423548.5:c.1398G>C	ENSP00000405841.2:p.Leu466=
ENST00000448688.6:c.849G>C	ENSP00000414885.3:p.Leu283=
ENST00000460056.6:c.1074G>C	ENSP00000423306.1:p.Leu358=
ENST00000470033.2:c.1218G>C	ENSP00000420712.1:p.Leu406=
ENST00000471616.5:c.1370G>C	ENSP00000434475.1:n.1370G>C
ENST00000613319.4:c.924G>C	ENSP00000480522.1:p.Leu308=
NM_001253727.1:c.1398G>C	NP_001240656.1:p.Leu466=
NM_001253728.1:c.1218G>C	NP_001240657.1:p.Leu406=
NM_001253729.1:c.1173G>C	NP_001240658.1:p.Leu391=
NM_001253730.1:c.924G>C	NP_001240659.1:p.Leu308=
NM_001253732.1:c.921G>C	NP_001240661.1:p.Leu307=
NM_001253733.1:c.849G>C	NP_001240662.1:p.Leu283=
NM_021634.3:c.1317G>C	NP_067647.2:p.Leu439=
NR_045579.1:n.2197G>C
NR_045580.1:n.1633G>C
NR_045581.1:n.1604G>C
NR_045582.1:n.1541G>C
NR_045583.1:n.1520G>C
NR_045584.1:n.1633G>C
XM_011532174.1:c.1395G>C	XP_011530476.1:p.Leu465=
XM_011532175.1:c.1326G>C	XP_011530477.1:p.Leu442=
XM_011532176.1:c.1245G>C	XP_011530478.1:p.Leu415=
XM_011532177.1:c.1155G>C	XP_011530479.1:p.Leu385=
XM_011532178.1:c.1155G>C	XP_011530480.1:p.Leu385=
XM_011532179.1:c.1196+5779G>C	XP_011530481.1:n.1196+5779G>C
NM_001363776.1:c.1074G>C	NP_001350705.1:p.Leu358=
XM_011532176.2:c.1245G>C	XP_011530478.1:p.Leu415=
XM_011532179.2:c.1196+5779G>C	XP_011530481.1:n.1196+5779G>C
XM_017008517.1:c.1323G>C	XP_016864006.1:p.Leu441=
XM_017008518.2:c.1314G>C	XP_016864007.1:p.Leu438=
XM_017008519.1:c.1155G>C	XP_016864008.1:p.Leu385=
XM_017008520.1:c.1155G>C	XP_016864009.1:p.Leu385=
XM_017008522.1:c.1071G>C	XP_016864011.1:p.Leu357=
XM_017008523.2:c.1115+5779G>C	XP_016864012.1:n.1115+5779G>C
XM_017008524.2:c.1043+5779G>C	XP_016864013.1:n.1043+5779G>C
XM_017008525.1:c.1016+5779G>C	XP_016864014.1:n.1016+5779G>C
XM_017008526.1:c.849G>C	XP_016864015.1:p.Leu283=
NM_021634.4:c.1317G>C MANE Select	NP_067647.2:p.Leu439=
NM_001253728.2:c.1218G>C	NP_001240657.1:p.Leu406=
NM_001253729.2:c.1173G>C	NP_001240658.1:p.Leu391=
NM_001253732.2:c.921G>C	NP_001240661.1:p.Leu307=
NR_045579.2:n.2029G>C
NR_045580.2:n.1465G>C
NR_045581.2:n.1436G>C
NR_045582.2:n.1373G>C
NR_045583.2:n.1352G>C
NR_045584.2:n.1465G>C
NM_001253727.2:c.1398G>C	NP_001240656.1:p.Leu466=
NM_001253730.2:c.924G>C	NP_001240659.1:p.Leu308=
NM_001253733.2:c.849G>C	NP_001240662.1:p.Leu283=