Canonical Allele Identifier: CA358565255

Gene: RXFP1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158646907G>C , CM000666.2:g.158646907G>C	GRCh38
NC_000004.11:g.159568059G>C , CM000666.1:g.159568059G>C	GRCh37
NC_000004.10:g.159787509G>C	NCBI36
NG_031835.1:g.130194G>C
NG_031835.2:g.130194G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_021634.4:c.1462G>C MANE Select	NP_067647.2:p.Val488Leu
ENST00000307765.10:c.1462G>C MANE Select	ENSP00000303248.5:p.Val488Leu
NM_001253727.1:c.1543G>C	NP_001240656.1:p.Val515Leu
NM_001253727.2:c.1543G>C	NP_001240656.1:p.Val515Leu
NM_001253728.1:c.1363G>C	NP_001240657.1:p.Val455Leu
NM_001253728.2:c.1363G>C	NP_001240657.1:p.Val455Leu
NM_001253729.1:c.1318G>C	NP_001240658.1:p.Val440Leu
NM_001253729.2:c.1318G>C	NP_001240658.1:p.Val440Leu
NM_001253730.1:c.1069G>C	NP_001240659.1:p.Val357Leu
NM_001253730.2:c.1069G>C	NP_001240659.1:p.Val357Leu
NM_001253732.1:c.1066G>C	NP_001240661.1:p.Val356Leu
NM_001253732.2:c.1066G>C	NP_001240661.1:p.Val356Leu
NM_001253733.1:c.994G>C	NP_001240662.1:p.Val332Leu
NM_001253733.2:c.994G>C	NP_001240662.1:p.Val332Leu
NM_001363776.1:c.1219G>C	NP_001350705.1:p.Val407Leu
NM_021634.3:c.1462G>C	NP_067647.2:p.Val488Leu
NR_045579.1:n.2342G>C
NR_045579.2:n.2174G>C
NR_045580.1:n.1778G>C
NR_045580.2:n.1610G>C
NR_045581.1:n.1749G>C
NR_045581.2:n.1581G>C
NR_045582.1:n.1686G>C
NR_045582.2:n.1518G>C
NR_045583.1:n.1665G>C
NR_045583.2:n.1497G>C
ENST00000307765.9:c.1462G>C	ENSP00000303248.5:p.Val488Leu
ENST00000342048.9:c.*1072G>C	ENSP00000432036.1:n.*1072G>C
ENST00000343542.9:c.1318G>C	ENSP00000345889.5:p.Val440Leu
ENST00000423548.5:c.1543G>C	ENSP00000405841.2:p.Val515Leu
ENST00000448688.6:c.994G>C	ENSP00000414885.3:p.Val332Leu
ENST00000460056.6:c.1219G>C	ENSP00000423306.1:p.Val407Leu
ENST00000470033.2:c.1363G>C	ENSP00000420712.1:p.Val455Leu
ENST00000613319.4:c.1069G>C	ENSP00000480522.1:p.Val357Leu
XM_011532174.1:c.1540G>C	XP_011530476.1:p.Val514Leu
XM_011532175.1:c.1471G>C	XP_011530477.1:p.Val491Leu
XM_011532176.1:c.1390G>C	XP_011530478.1:p.Val464Leu
XM_011532176.2:c.1390G>C	XP_011530478.1:p.Val464Leu
XM_011532177.1:c.1300G>C	XP_011530479.1:p.Val434Leu
XM_011532178.1:c.1300G>C	XP_011530480.1:p.Val434Leu
XM_011532179.1:c.1197-4850G>C	XP_011530481.1:n.1197-4850G>C
XM_011532179.2:c.1197-4850G>C	XP_011530481.1:n.1197-4850G>C
XM_017008517.1:c.1468G>C	XP_016864006.1:p.Val490Leu
XM_017008518.2:c.1459G>C	XP_016864007.1:p.Val487Leu
XM_017008519.1:c.1300G>C	XP_016864008.1:p.Val434Leu
XM_017008520.1:c.1300G>C	XP_016864009.1:p.Val434Leu
XM_017008522.1:c.1216G>C	XP_016864011.1:p.Val406Leu
XM_017008523.2:c.1116-4850G>C	XP_016864012.1:n.1116-4850G>C
XM_017008524.2:c.1044-4850G>C	XP_016864013.1:n.1044-4850G>C
XM_017008525.1:c.1017-4850G>C	XP_016864014.1:n.1017-4850G>C
XM_017008526.1:c.994G>C	XP_016864015.1:p.Val332Leu