Canonical Allele Identifier: CA358564138

Gene: RXFP1

Linked Data

• gnomAD v4: 4-158645105-A-C
• MyVariant Identifiers: chr4:g.159566257A>C (hg19) ; chr4:g.158645105A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158645105A>C , CM000666.2:g.158645105A>C	GRCh38
NC_000004.11:g.159566257A>C , CM000666.1:g.159566257A>C	GRCh37
NC_000004.10:g.159785707A>C	NCBI36
NG_031835.1:g.128392A>C
NG_031835.2:g.128392A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307765.10:c.1312A>C MANE Select	ENSP00000303248.5:p.Lys438Gln
ENST00000307765.9:c.1312A>C	ENSP00000303248.5:p.Lys438Gln
ENST00000342048.9:c.*922A>C	ENSP00000432036.1:n.*922A>C
ENST00000343542.9:c.1168A>C	ENSP00000345889.5:p.Lys390Gln
ENST00000423548.5:c.1393A>C	ENSP00000405841.2:p.Lys465Gln
ENST00000448688.6:c.844A>C	ENSP00000414885.3:p.Lys282Gln
ENST00000460056.6:c.1069A>C	ENSP00000423306.1:p.Lys357Gln
ENST00000470033.2:c.1213A>C	ENSP00000420712.1:p.Lys405Gln
ENST00000471616.5:c.1365A>C	ENSP00000434475.1:n.1365A>C
ENST00000613319.4:c.919A>C	ENSP00000480522.1:p.Lys307Gln
NM_001253727.1:c.1393A>C	NP_001240656.1:p.Lys465Gln
NM_001253728.1:c.1213A>C	NP_001240657.1:p.Lys405Gln
NM_001253729.1:c.1168A>C	NP_001240658.1:p.Lys390Gln
NM_001253730.1:c.919A>C	NP_001240659.1:p.Lys307Gln
NM_001253732.1:c.916A>C	NP_001240661.1:p.Lys306Gln
NM_001253733.1:c.844A>C	NP_001240662.1:p.Lys282Gln
NM_021634.3:c.1312A>C	NP_067647.2:p.Lys438Gln
NR_045579.1:n.2192A>C
NR_045580.1:n.1628A>C
NR_045581.1:n.1599A>C
NR_045582.1:n.1536A>C
NR_045583.1:n.1515A>C
NR_045584.1:n.1628A>C
XM_011532174.1:c.1390A>C	XP_011530476.1:p.Lys464Gln
XM_011532175.1:c.1321A>C	XP_011530477.1:p.Lys441Gln
XM_011532176.1:c.1240A>C	XP_011530478.1:p.Lys414Gln
XM_011532177.1:c.1150A>C	XP_011530479.1:p.Lys384Gln
XM_011532178.1:c.1150A>C	XP_011530480.1:p.Lys384Gln
XM_011532179.1:c.1196+5774A>C	XP_011530481.1:n.1196+5774A>C
NM_001363776.1:c.1069A>C	NP_001350705.1:p.Lys357Gln
XM_011532176.2:c.1240A>C	XP_011530478.1:p.Lys414Gln
XM_011532179.2:c.1196+5774A>C	XP_011530481.1:n.1196+5774A>C
XM_017008517.1:c.1318A>C	XP_016864006.1:p.Lys440Gln
XM_017008518.2:c.1309A>C	XP_016864007.1:p.Lys437Gln
XM_017008519.1:c.1150A>C	XP_016864008.1:p.Lys384Gln
XM_017008520.1:c.1150A>C	XP_016864009.1:p.Lys384Gln
XM_017008522.1:c.1066A>C	XP_016864011.1:p.Lys356Gln
XM_017008523.2:c.1115+5774A>C	XP_016864012.1:n.1115+5774A>C
XM_017008524.2:c.1043+5774A>C	XP_016864013.1:n.1043+5774A>C
XM_017008525.1:c.1016+5774A>C	XP_016864014.1:n.1016+5774A>C
XM_017008526.1:c.844A>C	XP_016864015.1:p.Lys282Gln
NM_021634.4:c.1312A>C MANE Select	NP_067647.2:p.Lys438Gln
NM_001253728.2:c.1213A>C	NP_001240657.1:p.Lys405Gln
NM_001253729.2:c.1168A>C	NP_001240658.1:p.Lys390Gln
NM_001253732.2:c.916A>C	NP_001240661.1:p.Lys306Gln
NR_045579.2:n.2024A>C
NR_045580.2:n.1460A>C
NR_045581.2:n.1431A>C
NR_045582.2:n.1368A>C
NR_045583.2:n.1347A>C
NR_045584.2:n.1460A>C
NM_001253727.2:c.1393A>C	NP_001240656.1:p.Lys465Gln
NM_001253730.2:c.919A>C	NP_001240659.1:p.Lys307Gln
NM_001253733.2:c.844A>C	NP_001240662.1:p.Lys282Gln