Canonical Allele Identifier: CA358564198

Gene: RXFP1

Linked Data

• gnomAD v4: 4-158645130-C-T
• COSMIC: COSM1052658
• MyVariant Identifiers: chr4:g.159566282C>T (hg19) ; chr4:g.158645130C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158645130C>T , CM000666.2:g.158645130C>T	GRCh38
NC_000004.11:g.159566282C>T , CM000666.1:g.159566282C>T	GRCh37
NC_000004.10:g.159785732C>T	NCBI36
NG_031835.1:g.128417C>T
NG_031835.2:g.128417C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307765.10:c.1337C>T MANE Select	ENSP00000303248.5:p.Ser446Phe
ENST00000307765.9:c.1337C>T	ENSP00000303248.5:p.Ser446Phe
ENST00000342048.9:c.*947C>T	ENSP00000432036.1:n.*947C>T
ENST00000343542.9:c.1193C>T	ENSP00000345889.5:p.Ser398Phe
ENST00000423548.5:c.1418C>T	ENSP00000405841.2:p.Ser473Phe
ENST00000448688.6:c.869C>T	ENSP00000414885.3:p.Ser290Phe
ENST00000460056.6:c.1094C>T	ENSP00000423306.1:p.Ser365Phe
ENST00000470033.2:c.1238C>T	ENSP00000420712.1:p.Ser413Phe
ENST00000471616.5:c.1390C>T	ENSP00000434475.1:n.1390C>T
ENST00000613319.4:c.944C>T	ENSP00000480522.1:p.Ser315Phe
NM_001253727.1:c.1418C>T	NP_001240656.1:p.Ser473Phe
NM_001253728.1:c.1238C>T	NP_001240657.1:p.Ser413Phe
NM_001253729.1:c.1193C>T	NP_001240658.1:p.Ser398Phe
NM_001253730.1:c.944C>T	NP_001240659.1:p.Ser315Phe
NM_001253732.1:c.941C>T	NP_001240661.1:p.Ser314Phe
NM_001253733.1:c.869C>T	NP_001240662.1:p.Ser290Phe
NM_021634.3:c.1337C>T	NP_067647.2:p.Ser446Phe
NR_045579.1:n.2217C>T
NR_045580.1:n.1653C>T
NR_045581.1:n.1624C>T
NR_045582.1:n.1561C>T
NR_045583.1:n.1540C>T
NR_045584.1:n.1653C>T
XM_011532174.1:c.1415C>T	XP_011530476.1:p.Ser472Phe
XM_011532175.1:c.1346C>T	XP_011530477.1:p.Ser449Phe
XM_011532176.1:c.1265C>T	XP_011530478.1:p.Ser422Phe
XM_011532177.1:c.1175C>T	XP_011530479.1:p.Ser392Phe
XM_011532178.1:c.1175C>T	XP_011530480.1:p.Ser392Phe
XM_011532179.1:c.1196+5799C>T	XP_011530481.1:n.1196+5799C>T
NM_001363776.1:c.1094C>T	NP_001350705.1:p.Ser365Phe
XM_011532176.2:c.1265C>T	XP_011530478.1:p.Ser422Phe
XM_011532179.2:c.1196+5799C>T	XP_011530481.1:n.1196+5799C>T
XM_017008517.1:c.1343C>T	XP_016864006.1:p.Ser448Phe
XM_017008518.2:c.1334C>T	XP_016864007.1:p.Ser445Phe
XM_017008519.1:c.1175C>T	XP_016864008.1:p.Ser392Phe
XM_017008520.1:c.1175C>T	XP_016864009.1:p.Ser392Phe
XM_017008522.1:c.1091C>T	XP_016864011.1:p.Ser364Phe
XM_017008523.2:c.1115+5799C>T	XP_016864012.1:n.1115+5799C>T
XM_017008524.2:c.1043+5799C>T	XP_016864013.1:n.1043+5799C>T
XM_017008525.1:c.1016+5799C>T	XP_016864014.1:n.1016+5799C>T
XM_017008526.1:c.869C>T	XP_016864015.1:p.Ser290Phe
NM_021634.4:c.1337C>T MANE Select	NP_067647.2:p.Ser446Phe
NM_001253728.2:c.1238C>T	NP_001240657.1:p.Ser413Phe
NM_001253729.2:c.1193C>T	NP_001240658.1:p.Ser398Phe
NM_001253732.2:c.941C>T	NP_001240661.1:p.Ser314Phe
NR_045579.2:n.2049C>T
NR_045580.2:n.1485C>T
NR_045581.2:n.1456C>T
NR_045582.2:n.1393C>T
NR_045583.2:n.1372C>T
NR_045584.2:n.1485C>T
NM_001253727.2:c.1418C>T	NP_001240656.1:p.Ser473Phe
NM_001253730.2:c.944C>T	NP_001240659.1:p.Ser315Phe
NM_001253733.2:c.869C>T	NP_001240662.1:p.Ser290Phe