Canonical Allele Identifier: CA358564104

Gene: RXFP1

Linked Data

• gnomAD v4: 4-158645096-T-A
• MyVariant Identifiers: chr4:g.159566248T>A (hg19) ; chr4:g.158645096T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158645096T>A , CM000666.2:g.158645096T>A	GRCh38
NC_000004.11:g.159566248T>A , CM000666.1:g.159566248T>A	GRCh37
NC_000004.10:g.159785698T>A	NCBI36
NG_031835.1:g.128383T>A
NG_031835.2:g.128383T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307765.10:c.1303T>A MANE Select	ENSP00000303248.5:p.Ser435Thr
ENST00000307765.9:c.1303T>A	ENSP00000303248.5:p.Ser435Thr
ENST00000342048.9:c.*913T>A	ENSP00000432036.1:n.*913T>A
ENST00000343542.9:c.1159T>A	ENSP00000345889.5:p.Ser387Thr
ENST00000423548.5:c.1384T>A	ENSP00000405841.2:p.Ser462Thr
ENST00000448688.6:c.835T>A	ENSP00000414885.3:p.Ser279Thr
ENST00000460056.6:c.1060T>A	ENSP00000423306.1:p.Ser354Thr
ENST00000470033.2:c.1204T>A	ENSP00000420712.1:p.Ser402Thr
ENST00000471616.5:c.1356T>A	ENSP00000434475.1:n.1356T>A
ENST00000613319.4:c.910T>A	ENSP00000480522.1:p.Ser304Thr
NM_001253727.1:c.1384T>A	NP_001240656.1:p.Ser462Thr
NM_001253728.1:c.1204T>A	NP_001240657.1:p.Ser402Thr
NM_001253729.1:c.1159T>A	NP_001240658.1:p.Ser387Thr
NM_001253730.1:c.910T>A	NP_001240659.1:p.Ser304Thr
NM_001253732.1:c.907T>A	NP_001240661.1:p.Ser303Thr
NM_001253733.1:c.835T>A	NP_001240662.1:p.Ser279Thr
NM_021634.3:c.1303T>A	NP_067647.2:p.Ser435Thr
NR_045579.1:n.2183T>A
NR_045580.1:n.1619T>A
NR_045581.1:n.1590T>A
NR_045582.1:n.1527T>A
NR_045583.1:n.1506T>A
NR_045584.1:n.1619T>A
XM_011532174.1:c.1381T>A	XP_011530476.1:p.Ser461Thr
XM_011532175.1:c.1312T>A	XP_011530477.1:p.Ser438Thr
XM_011532176.1:c.1231T>A	XP_011530478.1:p.Ser411Thr
XM_011532177.1:c.1141T>A	XP_011530479.1:p.Ser381Thr
XM_011532178.1:c.1141T>A	XP_011530480.1:p.Ser381Thr
XM_011532179.1:c.1196+5765T>A	XP_011530481.1:n.1196+5765T>A
NM_001363776.1:c.1060T>A	NP_001350705.1:p.Ser354Thr
XM_011532176.2:c.1231T>A	XP_011530478.1:p.Ser411Thr
XM_011532179.2:c.1196+5765T>A	XP_011530481.1:n.1196+5765T>A
XM_017008517.1:c.1309T>A	XP_016864006.1:p.Ser437Thr
XM_017008518.2:c.1300T>A	XP_016864007.1:p.Ser434Thr
XM_017008519.1:c.1141T>A	XP_016864008.1:p.Ser381Thr
XM_017008520.1:c.1141T>A	XP_016864009.1:p.Ser381Thr
XM_017008522.1:c.1057T>A	XP_016864011.1:p.Ser353Thr
XM_017008523.2:c.1115+5765T>A	XP_016864012.1:n.1115+5765T>A
XM_017008524.2:c.1043+5765T>A	XP_016864013.1:n.1043+5765T>A
XM_017008525.1:c.1016+5765T>A	XP_016864014.1:n.1016+5765T>A
XM_017008526.1:c.835T>A	XP_016864015.1:p.Ser279Thr
NM_021634.4:c.1303T>A MANE Select	NP_067647.2:p.Ser435Thr
NM_001253728.2:c.1204T>A	NP_001240657.1:p.Ser402Thr
NM_001253729.2:c.1159T>A	NP_001240658.1:p.Ser387Thr
NM_001253732.2:c.907T>A	NP_001240661.1:p.Ser303Thr
NR_045579.2:n.2015T>A
NR_045580.2:n.1451T>A
NR_045581.2:n.1422T>A
NR_045582.2:n.1359T>A
NR_045583.2:n.1338T>A
NR_045584.2:n.1451T>A
NM_001253727.2:c.1384T>A	NP_001240656.1:p.Ser462Thr
NM_001253730.2:c.910T>A	NP_001240659.1:p.Ser304Thr
NM_001253733.2:c.835T>A	NP_001240662.1:p.Ser279Thr