Canonical Allele Identifier: CA358564227

Gene: RXFP1

Linked Data

• gnomAD v4: 4-158646791-G-C
• MyVariant Identifiers: chr4:g.159567943G>C (hg19) ; chr4:g.158646791G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158646791G>C , CM000666.2:g.158646791G>C	GRCh38
NC_000004.11:g.159567943G>C , CM000666.1:g.159567943G>C	GRCh37
NC_000004.10:g.159787393G>C	NCBI36
NG_031835.1:g.130078G>C
NG_031835.2:g.130078G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307765.10:c.1346G>C MANE Select	ENSP00000303248.5:p.Cys449Ser
ENST00000307765.9:c.1346G>C	ENSP00000303248.5:p.Cys449Ser
ENST00000342048.9:c.*956G>C	ENSP00000432036.1:n.*956G>C
ENST00000343542.9:c.1202G>C	ENSP00000345889.5:p.Cys401Ser
ENST00000423548.5:c.1427G>C	ENSP00000405841.2:p.Cys476Ser
ENST00000448688.6:c.878G>C	ENSP00000414885.3:p.Cys293Ser
ENST00000460056.6:c.1103G>C	ENSP00000423306.1:p.Cys368Ser
ENST00000470033.2:c.1247G>C	ENSP00000420712.1:p.Cys416Ser
ENST00000613319.4:c.953G>C	ENSP00000480522.1:p.Cys318Ser
NM_001253727.1:c.1427G>C	NP_001240656.1:p.Cys476Ser
NM_001253728.1:c.1247G>C	NP_001240657.1:p.Cys416Ser
NM_001253729.1:c.1202G>C	NP_001240658.1:p.Cys401Ser
NM_001253730.1:c.953G>C	NP_001240659.1:p.Cys318Ser
NM_001253732.1:c.950G>C	NP_001240661.1:p.Cys317Ser
NM_001253733.1:c.878G>C	NP_001240662.1:p.Cys293Ser
NM_021634.3:c.1346G>C	NP_067647.2:p.Cys449Ser
NR_045579.1:n.2226G>C
NR_045580.1:n.1662G>C
NR_045581.1:n.1633G>C
NR_045582.1:n.1570G>C
NR_045583.1:n.1549G>C
XM_011532174.1:c.1424G>C	XP_011530476.1:p.Cys475Ser
XM_011532175.1:c.1355G>C	XP_011530477.1:p.Cys452Ser
XM_011532176.1:c.1274G>C	XP_011530478.1:p.Cys425Ser
XM_011532177.1:c.1184G>C	XP_011530479.1:p.Cys395Ser
XM_011532178.1:c.1184G>C	XP_011530480.1:p.Cys395Ser
XM_011532179.1:c.1197-4966G>C	XP_011530481.1:n.1197-4966G>C
NM_001363776.1:c.1103G>C	NP_001350705.1:p.Cys368Ser
XM_011532176.2:c.1274G>C	XP_011530478.1:p.Cys425Ser
XM_011532179.2:c.1197-4966G>C	XP_011530481.1:n.1197-4966G>C
XM_017008517.1:c.1352G>C	XP_016864006.1:p.Cys451Ser
XM_017008518.2:c.1343G>C	XP_016864007.1:p.Cys448Ser
XM_017008519.1:c.1184G>C	XP_016864008.1:p.Cys395Ser
XM_017008520.1:c.1184G>C	XP_016864009.1:p.Cys395Ser
XM_017008522.1:c.1100G>C	XP_016864011.1:p.Cys367Ser
XM_017008523.2:c.1116-4966G>C	XP_016864012.1:n.1116-4966G>C
XM_017008524.2:c.1044-4966G>C	XP_016864013.1:n.1044-4966G>C
XM_017008525.1:c.1017-4966G>C	XP_016864014.1:n.1017-4966G>C
XM_017008526.1:c.878G>C	XP_016864015.1:p.Cys293Ser
NM_021634.4:c.1346G>C MANE Select	NP_067647.2:p.Cys449Ser
NM_001253728.2:c.1247G>C	NP_001240657.1:p.Cys416Ser
NM_001253729.2:c.1202G>C	NP_001240658.1:p.Cys401Ser
NM_001253732.2:c.950G>C	NP_001240661.1:p.Cys317Ser
NR_045579.2:n.2058G>C
NR_045580.2:n.1494G>C
NR_045581.2:n.1465G>C
NR_045582.2:n.1402G>C
NR_045583.2:n.1381G>C
NM_001253727.2:c.1427G>C	NP_001240656.1:p.Cys476Ser
NM_001253730.2:c.953G>C	NP_001240659.1:p.Cys318Ser
NM_001253733.2:c.878G>C	NP_001240662.1:p.Cys293Ser