Canonical Allele Identifier: CA358564153

Gene: RXFP1

Linked Data

• gnomAD v4: 4-158645111-T-G
• MyVariant Identifiers: chr4:g.159566263T>G (hg19) ; chr4:g.158645111T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158645111T>G , CM000666.2:g.158645111T>G	GRCh38
NC_000004.11:g.159566263T>G , CM000666.1:g.159566263T>G	GRCh37
NC_000004.10:g.159785713T>G	NCBI36
NG_031835.1:g.128398T>G
NG_031835.2:g.128398T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307765.10:c.1318T>G MANE Select	ENSP00000303248.5:p.Tyr440Asp
ENST00000307765.9:c.1318T>G	ENSP00000303248.5:p.Tyr440Asp
ENST00000342048.9:c.*928T>G	ENSP00000432036.1:n.*928T>G
ENST00000343542.9:c.1174T>G	ENSP00000345889.5:p.Tyr392Asp
ENST00000423548.5:c.1399T>G	ENSP00000405841.2:p.Tyr467Asp
ENST00000448688.6:c.850T>G	ENSP00000414885.3:p.Tyr284Asp
ENST00000460056.6:c.1075T>G	ENSP00000423306.1:p.Tyr359Asp
ENST00000470033.2:c.1219T>G	ENSP00000420712.1:p.Tyr407Asp
ENST00000471616.5:c.1371T>G	ENSP00000434475.1:n.1371T>G
ENST00000613319.4:c.925T>G	ENSP00000480522.1:p.Tyr309Asp
NM_001253727.1:c.1399T>G	NP_001240656.1:p.Tyr467Asp
NM_001253728.1:c.1219T>G	NP_001240657.1:p.Tyr407Asp
NM_001253729.1:c.1174T>G	NP_001240658.1:p.Tyr392Asp
NM_001253730.1:c.925T>G	NP_001240659.1:p.Tyr309Asp
NM_001253732.1:c.922T>G	NP_001240661.1:p.Tyr308Asp
NM_001253733.1:c.850T>G	NP_001240662.1:p.Tyr284Asp
NM_021634.3:c.1318T>G	NP_067647.2:p.Tyr440Asp
NR_045579.1:n.2198T>G
NR_045580.1:n.1634T>G
NR_045581.1:n.1605T>G
NR_045582.1:n.1542T>G
NR_045583.1:n.1521T>G
NR_045584.1:n.1634T>G
XM_011532174.1:c.1396T>G	XP_011530476.1:p.Tyr466Asp
XM_011532175.1:c.1327T>G	XP_011530477.1:p.Tyr443Asp
XM_011532176.1:c.1246T>G	XP_011530478.1:p.Tyr416Asp
XM_011532177.1:c.1156T>G	XP_011530479.1:p.Tyr386Asp
XM_011532178.1:c.1156T>G	XP_011530480.1:p.Tyr386Asp
XM_011532179.1:c.1196+5780T>G	XP_011530481.1:n.1196+5780T>G
NM_001363776.1:c.1075T>G	NP_001350705.1:p.Tyr359Asp
XM_011532176.2:c.1246T>G	XP_011530478.1:p.Tyr416Asp
XM_011532179.2:c.1196+5780T>G	XP_011530481.1:n.1196+5780T>G
XM_017008517.1:c.1324T>G	XP_016864006.1:p.Tyr442Asp
XM_017008518.2:c.1315T>G	XP_016864007.1:p.Tyr439Asp
XM_017008519.1:c.1156T>G	XP_016864008.1:p.Tyr386Asp
XM_017008520.1:c.1156T>G	XP_016864009.1:p.Tyr386Asp
XM_017008522.1:c.1072T>G	XP_016864011.1:p.Tyr358Asp
XM_017008523.2:c.1115+5780T>G	XP_016864012.1:n.1115+5780T>G
XM_017008524.2:c.1043+5780T>G	XP_016864013.1:n.1043+5780T>G
XM_017008525.1:c.1016+5780T>G	XP_016864014.1:n.1016+5780T>G
XM_017008526.1:c.850T>G	XP_016864015.1:p.Tyr284Asp
NM_021634.4:c.1318T>G MANE Select	NP_067647.2:p.Tyr440Asp
NM_001253728.2:c.1219T>G	NP_001240657.1:p.Tyr407Asp
NM_001253729.2:c.1174T>G	NP_001240658.1:p.Tyr392Asp
NM_001253732.2:c.922T>G	NP_001240661.1:p.Tyr308Asp
NR_045579.2:n.2030T>G
NR_045580.2:n.1466T>G
NR_045581.2:n.1437T>G
NR_045582.2:n.1374T>G
NR_045583.2:n.1353T>G
NR_045584.2:n.1466T>G
NM_001253727.2:c.1399T>G	NP_001240656.1:p.Tyr467Asp
NM_001253730.2:c.925T>G	NP_001240659.1:p.Tyr309Asp
NM_001253733.2:c.850T>G	NP_001240662.1:p.Tyr284Asp