Canonical Allele Identifier: CA358564142

Gene: RXFP1

Linked Data

• COSMIC: COSM1224423
• MyVariant Identifiers: chr4:g.159566258A>C (hg19) ; chr4:g.158645106A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158645106A>C , CM000666.2:g.158645106A>C	GRCh38
NC_000004.11:g.159566258A>C , CM000666.1:g.159566258A>C	GRCh37
NC_000004.10:g.159785708A>C	NCBI36
NG_031835.1:g.128393A>C
NG_031835.2:g.128393A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307765.10:c.1313A>C MANE Select	ENSP00000303248.5:p.Lys438Thr
ENST00000307765.9:c.1313A>C	ENSP00000303248.5:p.Lys438Thr
ENST00000342048.9:c.*923A>C	ENSP00000432036.1:n.*923A>C
ENST00000343542.9:c.1169A>C	ENSP00000345889.5:p.Lys390Thr
ENST00000423548.5:c.1394A>C	ENSP00000405841.2:p.Lys465Thr
ENST00000448688.6:c.845A>C	ENSP00000414885.3:p.Lys282Thr
ENST00000460056.6:c.1070A>C	ENSP00000423306.1:p.Lys357Thr
ENST00000470033.2:c.1214A>C	ENSP00000420712.1:p.Lys405Thr
ENST00000471616.5:c.1366A>C	ENSP00000434475.1:n.1366A>C
ENST00000613319.4:c.920A>C	ENSP00000480522.1:p.Lys307Thr
NM_001253727.1:c.1394A>C	NP_001240656.1:p.Lys465Thr
NM_001253728.1:c.1214A>C	NP_001240657.1:p.Lys405Thr
NM_001253729.1:c.1169A>C	NP_001240658.1:p.Lys390Thr
NM_001253730.1:c.920A>C	NP_001240659.1:p.Lys307Thr
NM_001253732.1:c.917A>C	NP_001240661.1:p.Lys306Thr
NM_001253733.1:c.845A>C	NP_001240662.1:p.Lys282Thr
NM_021634.3:c.1313A>C	NP_067647.2:p.Lys438Thr
NR_045579.1:n.2193A>C
NR_045580.1:n.1629A>C
NR_045581.1:n.1600A>C
NR_045582.1:n.1537A>C
NR_045583.1:n.1516A>C
NR_045584.1:n.1629A>C
XM_011532174.1:c.1391A>C	XP_011530476.1:p.Lys464Thr
XM_011532175.1:c.1322A>C	XP_011530477.1:p.Lys441Thr
XM_011532176.1:c.1241A>C	XP_011530478.1:p.Lys414Thr
XM_011532177.1:c.1151A>C	XP_011530479.1:p.Lys384Thr
XM_011532178.1:c.1151A>C	XP_011530480.1:p.Lys384Thr
XM_011532179.1:c.1196+5775A>C	XP_011530481.1:n.1196+5775A>C
NM_001363776.1:c.1070A>C	NP_001350705.1:p.Lys357Thr
XM_011532176.2:c.1241A>C	XP_011530478.1:p.Lys414Thr
XM_011532179.2:c.1196+5775A>C	XP_011530481.1:n.1196+5775A>C
XM_017008517.1:c.1319A>C	XP_016864006.1:p.Lys440Thr
XM_017008518.2:c.1310A>C	XP_016864007.1:p.Lys437Thr
XM_017008519.1:c.1151A>C	XP_016864008.1:p.Lys384Thr
XM_017008520.1:c.1151A>C	XP_016864009.1:p.Lys384Thr
XM_017008522.1:c.1067A>C	XP_016864011.1:p.Lys356Thr
XM_017008523.2:c.1115+5775A>C	XP_016864012.1:n.1115+5775A>C
XM_017008524.2:c.1043+5775A>C	XP_016864013.1:n.1043+5775A>C
XM_017008525.1:c.1016+5775A>C	XP_016864014.1:n.1016+5775A>C
XM_017008526.1:c.845A>C	XP_016864015.1:p.Lys282Thr
NM_021634.4:c.1313A>C MANE Select	NP_067647.2:p.Lys438Thr
NM_001253728.2:c.1214A>C	NP_001240657.1:p.Lys405Thr
NM_001253729.2:c.1169A>C	NP_001240658.1:p.Lys390Thr
NM_001253732.2:c.917A>C	NP_001240661.1:p.Lys306Thr
NR_045579.2:n.2025A>C
NR_045580.2:n.1461A>C
NR_045581.2:n.1432A>C
NR_045582.2:n.1369A>C
NR_045583.2:n.1348A>C
NR_045584.2:n.1461A>C
NM_001253727.2:c.1394A>C	NP_001240656.1:p.Lys465Thr
NM_001253730.2:c.920A>C	NP_001240659.1:p.Lys307Thr
NM_001253733.2:c.845A>C	NP_001240662.1:p.Lys282Thr