Canonical Allele Identifier: CA358564124

Gene: RXFP1

Linked Data

• COSMIC: COSM345601
• MyVariant Identifiers: chr4:g.159566251G>T (hg19) ; chr4:g.158645099G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158645099G>T , CM000666.2:g.158645099G>T	GRCh38
NC_000004.11:g.159566251G>T , CM000666.1:g.159566251G>T	GRCh37
NC_000004.10:g.159785701G>T	NCBI36
NG_031835.1:g.128386G>T
NG_031835.2:g.128386G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307765.10:c.1306G>T MANE Select	ENSP00000303248.5:p.Glu436Ter
ENST00000307765.9:c.1306G>T	ENSP00000303248.5:p.Glu436Ter
ENST00000342048.9:c.*916G>T	ENSP00000432036.1:n.*916G>T
ENST00000343542.9:c.1162G>T	ENSP00000345889.5:p.Glu388Ter
ENST00000423548.5:c.1387G>T	ENSP00000405841.2:p.Glu463Ter
ENST00000448688.6:c.838G>T	ENSP00000414885.3:p.Glu280Ter
ENST00000460056.6:c.1063G>T	ENSP00000423306.1:p.Glu355Ter
ENST00000470033.2:c.1207G>T	ENSP00000420712.1:p.Glu403Ter
ENST00000471616.5:c.1359G>T	ENSP00000434475.1:n.1359G>T
ENST00000613319.4:c.913G>T	ENSP00000480522.1:p.Glu305Ter
NM_001253727.1:c.1387G>T	NP_001240656.1:p.Glu463Ter
NM_001253728.1:c.1207G>T	NP_001240657.1:p.Glu403Ter
NM_001253729.1:c.1162G>T	NP_001240658.1:p.Glu388Ter
NM_001253730.1:c.913G>T	NP_001240659.1:p.Glu305Ter
NM_001253732.1:c.910G>T	NP_001240661.1:p.Glu304Ter
NM_001253733.1:c.838G>T	NP_001240662.1:p.Glu280Ter
NM_021634.3:c.1306G>T	NP_067647.2:p.Glu436Ter
NR_045579.1:n.2186G>T
NR_045580.1:n.1622G>T
NR_045581.1:n.1593G>T
NR_045582.1:n.1530G>T
NR_045583.1:n.1509G>T
NR_045584.1:n.1622G>T
XM_011532174.1:c.1384G>T	XP_011530476.1:p.Glu462Ter
XM_011532175.1:c.1315G>T	XP_011530477.1:p.Glu439Ter
XM_011532176.1:c.1234G>T	XP_011530478.1:p.Glu412Ter
XM_011532177.1:c.1144G>T	XP_011530479.1:p.Glu382Ter
XM_011532178.1:c.1144G>T	XP_011530480.1:p.Glu382Ter
XM_011532179.1:c.1196+5768G>T	XP_011530481.1:n.1196+5768G>T
NM_001363776.1:c.1063G>T	NP_001350705.1:p.Glu355Ter
XM_011532176.2:c.1234G>T	XP_011530478.1:p.Glu412Ter
XM_011532179.2:c.1196+5768G>T	XP_011530481.1:n.1196+5768G>T
XM_017008517.1:c.1312G>T	XP_016864006.1:p.Glu438Ter
XM_017008518.2:c.1303G>T	XP_016864007.1:p.Glu435Ter
XM_017008519.1:c.1144G>T	XP_016864008.1:p.Glu382Ter
XM_017008520.1:c.1144G>T	XP_016864009.1:p.Glu382Ter
XM_017008522.1:c.1060G>T	XP_016864011.1:p.Glu354Ter
XM_017008523.2:c.1115+5768G>T	XP_016864012.1:n.1115+5768G>T
XM_017008524.2:c.1043+5768G>T	XP_016864013.1:n.1043+5768G>T
XM_017008525.1:c.1016+5768G>T	XP_016864014.1:n.1016+5768G>T
XM_017008526.1:c.838G>T	XP_016864015.1:p.Glu280Ter
NM_021634.4:c.1306G>T MANE Select	NP_067647.2:p.Glu436Ter
NM_001253728.2:c.1207G>T	NP_001240657.1:p.Glu403Ter
NM_001253729.2:c.1162G>T	NP_001240658.1:p.Glu388Ter
NM_001253732.2:c.910G>T	NP_001240661.1:p.Glu304Ter
NR_045579.2:n.2018G>T
NR_045580.2:n.1454G>T
NR_045581.2:n.1425G>T
NR_045582.2:n.1362G>T
NR_045583.2:n.1341G>T
NR_045584.2:n.1454G>T
NM_001253727.2:c.1387G>T	NP_001240656.1:p.Glu463Ter
NM_001253730.2:c.913G>T	NP_001240659.1:p.Glu305Ter
NM_001253733.2:c.838G>T	NP_001240662.1:p.Glu280Ter