Canonical Allele Identifier: CA3121908

Gene: RXFP1

Linked Data

• dbSNP Id: rs780274061
• ExAC: 4:159566288 G / A
• gnomAD v2: 4-159566288-G-A
• gnomAD v4: 4-158645136-G-A
• MyVariant Identifiers: chr4:g.159566288G>A (hg19) ; chr4:g.158645136G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158645136G>A , CM000666.2:g.158645136G>A	GRCh38
NC_000004.11:g.159566288G>A , CM000666.1:g.159566288G>A	GRCh37
NC_000004.10:g.159785738G>A	NCBI36
NG_031835.1:g.128423G>A
NG_031835.2:g.128423G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307765.10:c.1343G>A MANE Select	ENSP00000303248.5:p.Cys448Tyr
ENST00000307765.9:c.1343G>A	ENSP00000303248.5:p.Cys448Tyr
ENST00000342048.9:c.*953G>A	ENSP00000432036.1:n.*953G>A
ENST00000343542.9:c.1199G>A	ENSP00000345889.5:p.Cys400Tyr
ENST00000423548.5:c.1424G>A	ENSP00000405841.2:p.Cys475Tyr
ENST00000448688.6:c.875G>A	ENSP00000414885.3:p.Cys292Tyr
ENST00000460056.6:c.1100G>A	ENSP00000423306.1:p.Cys367Tyr
ENST00000470033.2:c.1244G>A	ENSP00000420712.1:p.Cys415Tyr
ENST00000471616.5:c.1396G>A	ENSP00000434475.1:n.1396G>A
ENST00000613319.4:c.950G>A	ENSP00000480522.1:p.Cys317Tyr
NM_001253727.1:c.1424G>A	NP_001240656.1:p.Cys475Tyr
NM_001253728.1:c.1244G>A	NP_001240657.1:p.Cys415Tyr
NM_001253729.1:c.1199G>A	NP_001240658.1:p.Cys400Tyr
NM_001253730.1:c.950G>A	NP_001240659.1:p.Cys317Tyr
NM_001253732.1:c.947G>A	NP_001240661.1:p.Cys316Tyr
NM_001253733.1:c.875G>A	NP_001240662.1:p.Cys292Tyr
NM_021634.3:c.1343G>A	NP_067647.2:p.Cys448Tyr
NR_045579.1:n.2223G>A
NR_045580.1:n.1659G>A
NR_045581.1:n.1630G>A
NR_045582.1:n.1567G>A
NR_045583.1:n.1546G>A
NR_045584.1:n.1659G>A
XM_011532174.1:c.1421G>A	XP_011530476.1:p.Cys474Tyr
XM_011532175.1:c.1352G>A	XP_011530477.1:p.Cys451Tyr
XM_011532176.1:c.1271G>A	XP_011530478.1:p.Cys424Tyr
XM_011532177.1:c.1181G>A	XP_011530479.1:p.Cys394Tyr
XM_011532178.1:c.1181G>A	XP_011530480.1:p.Cys394Tyr
XM_011532179.1:c.1196+5805G>A	XP_011530481.1:n.1196+5805G>A
NM_001363776.1:c.1100G>A	NP_001350705.1:p.Cys367Tyr
XM_011532176.2:c.1271G>A	XP_011530478.1:p.Cys424Tyr
XM_011532179.2:c.1196+5805G>A	XP_011530481.1:n.1196+5805G>A
XM_017008517.1:c.1349G>A	XP_016864006.1:p.Cys450Tyr
XM_017008518.2:c.1340G>A	XP_016864007.1:p.Cys447Tyr
XM_017008519.1:c.1181G>A	XP_016864008.1:p.Cys394Tyr
XM_017008520.1:c.1181G>A	XP_016864009.1:p.Cys394Tyr
XM_017008522.1:c.1097G>A	XP_016864011.1:p.Cys366Tyr
XM_017008523.2:c.1115+5805G>A	XP_016864012.1:n.1115+5805G>A
XM_017008524.2:c.1043+5805G>A	XP_016864013.1:n.1043+5805G>A
XM_017008525.1:c.1016+5805G>A	XP_016864014.1:n.1016+5805G>A
XM_017008526.1:c.875G>A	XP_016864015.1:p.Cys292Tyr
NM_021634.4:c.1343G>A MANE Select	NP_067647.2:p.Cys448Tyr
NM_001253728.2:c.1244G>A	NP_001240657.1:p.Cys415Tyr
NM_001253729.2:c.1199G>A	NP_001240658.1:p.Cys400Tyr
NM_001253732.2:c.947G>A	NP_001240661.1:p.Cys316Tyr
NR_045579.2:n.2055G>A
NR_045580.2:n.1491G>A
NR_045581.2:n.1462G>A
NR_045582.2:n.1399G>A
NR_045583.2:n.1378G>A
NR_045584.2:n.1491G>A
NM_001253727.2:c.1424G>A	NP_001240656.1:p.Cys475Tyr
NM_001253730.2:c.950G>A	NP_001240659.1:p.Cys317Tyr
NM_001253733.2:c.875G>A	NP_001240662.1:p.Cys292Tyr