Canonical Allele Identifier: CA3122104
Community Standard Title: NM_021634.4(RXFP1):c.2155T>C (p.Trp719Arg)
Gene: RXFP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.158651936T>C , CM000666.2:g.158651936T>C GRCh38
NC_000004.11:g.159573088T>C , CM000666.1:g.159573088T>C GRCh37
NC_000004.10:g.159792538T>C NCBI36
NG_031835.1:g.135223T>C
NG_031835.2:g.135223T>C

Transcript Alleles

HGVS Amino-acid Change
NM_021634.4:c.2155T>C MANE Select NP_067647.2:p.Trp719Arg
ENST00000307765.10:c.2155T>C MANE Select ENSP00000303248.5:p.Trp719Arg
NM_001253727.1:c.2236T>C NP_001240656.1:p.Trp746Arg
NM_001253727.2:c.2236T>C NP_001240656.1:p.Trp746Arg
NM_001253728.1:c.2056T>C NP_001240657.1:p.Trp686Arg
NM_001253728.2:c.2056T>C NP_001240657.1:p.Trp686Arg
NM_001253729.1:c.2011T>C NP_001240658.1:p.Trp671Arg
NM_001253729.2:c.2011T>C NP_001240658.1:p.Trp671Arg
NM_001253730.1:c.1762T>C NP_001240659.1:p.Trp588Arg
NM_001253730.2:c.1762T>C NP_001240659.1:p.Trp588Arg
NM_001253732.1:c.1759T>C NP_001240661.1:p.Trp587Arg
NM_001253732.2:c.1759T>C NP_001240661.1:p.Trp587Arg
NM_001253733.1:c.1687T>C NP_001240662.1:p.Trp563Arg
NM_001253733.2:c.1687T>C NP_001240662.1:p.Trp563Arg
NM_001363776.1:c.1912T>C NP_001350705.1:p.Trp638Arg
NM_021634.3:c.2155T>C NP_067647.2:p.Trp719Arg
NR_045579.1:n.3035T>C
NR_045579.2:n.2867T>C
NR_045580.1:n.2471T>C
NR_045580.2:n.2303T>C
NR_045581.1:n.2442T>C
NR_045581.2:n.2274T>C
NR_045582.1:n.2379T>C
NR_045582.2:n.2211T>C
NR_045583.1:n.2358T>C
NR_045583.2:n.2190T>C
ENST00000307765.9:c.2155T>C ENSP00000303248.5:p.Trp719Arg
ENST00000342048.9:c.*1765T>C ENSP00000432036.1:n.*1765T>C
ENST00000343542.9:c.2011T>C ENSP00000345889.5:p.Trp671Arg
ENST00000423548.5:c.2236T>C ENSP00000405841.2:p.Trp746Arg
ENST00000448688.6:c.1687T>C ENSP00000414885.3:p.Trp563Arg
ENST00000460056.6:c.1912T>C ENSP00000423306.1:p.Trp638Arg
ENST00000470033.2:c.2056T>C ENSP00000420712.1:p.Trp686Arg
ENST00000613319.4:c.1762T>C ENSP00000480522.1:p.Trp588Arg
XM_011532174.1:c.2233T>C XP_011530476.1:p.Trp745Arg
XM_011532175.1:c.2164T>C XP_011530477.1:p.Trp722Arg
XM_011532176.1:c.2083T>C XP_011530478.1:p.Trp695Arg
XM_011532176.2:c.2083T>C XP_011530478.1:p.Trp695Arg
XM_011532177.1:c.1993T>C XP_011530479.1:p.Trp665Arg
XM_011532178.1:c.1993T>C XP_011530480.1:p.Trp665Arg
XM_011532179.2:c.*137T>C XP_011530481.1:n.*137T>C
XM_017008517.1:c.2161T>C XP_016864006.1:p.Trp721Arg
XM_017008518.2:c.2152T>C XP_016864007.1:p.Trp718Arg
XM_017008519.1:c.1993T>C XP_016864008.1:p.Trp665Arg
XM_017008520.1:c.1993T>C XP_016864009.1:p.Trp665Arg
XM_017008522.1:c.1909T>C XP_016864011.1:p.Trp637Arg
XM_017008523.2:c.*137T>C XP_016864012.1:n.*137T>C
XM_017008524.2:c.*137T>C XP_016864013.1:n.*137T>C
XM_017008525.1:c.*137T>C XP_016864014.1:n.*137T>C
XM_017008526.1:c.1687T>C XP_016864015.1:p.Trp563Arg