Canonical Allele Identifier: CA442140392

Gene: RXFP1

Linked Data

• dbSNP Id: rs1479232116
• gnomAD v2: 4-159566286-C-T
• gnomAD v3: 4-158645134-C-T
• gnomAD v4: 4-158645134-C-T
• MyVariant Identifiers: chr4:g.159566286C>T (hg19) ; chr4:g.158645134C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158645134C>T , CM000666.2:g.158645134C>T	GRCh38
NC_000004.11:g.159566286C>T , CM000666.1:g.159566286C>T	GRCh37
NC_000004.10:g.159785736C>T	NCBI36
NG_031835.1:g.128421C>T
NG_031835.2:g.128421C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307765.10:c.1341C>T MANE Select	ENSP00000303248.5:p.Leu447=
ENST00000307765.9:c.1341C>T	ENSP00000303248.5:p.Leu447=
ENST00000342048.9:c.*951C>T	ENSP00000432036.1:n.*951C>T
ENST00000343542.9:c.1197C>T	ENSP00000345889.5:p.Leu399=
ENST00000423548.5:c.1422C>T	ENSP00000405841.2:p.Leu474=
ENST00000448688.6:c.873C>T	ENSP00000414885.3:p.Leu291=
ENST00000460056.6:c.1098C>T	ENSP00000423306.1:p.Leu366=
ENST00000470033.2:c.1242C>T	ENSP00000420712.1:p.Leu414=
ENST00000471616.5:c.1394C>T	ENSP00000434475.1:n.1394C>T
ENST00000613319.4:c.948C>T	ENSP00000480522.1:p.Leu316=
NM_001253727.1:c.1422C>T	NP_001240656.1:p.Leu474=
NM_001253728.1:c.1242C>T	NP_001240657.1:p.Leu414=
NM_001253729.1:c.1197C>T	NP_001240658.1:p.Leu399=
NM_001253730.1:c.948C>T	NP_001240659.1:p.Leu316=
NM_001253732.1:c.945C>T	NP_001240661.1:p.Leu315=
NM_001253733.1:c.873C>T	NP_001240662.1:p.Leu291=
NM_021634.3:c.1341C>T	NP_067647.2:p.Leu447=
NR_045579.1:n.2221C>T
NR_045580.1:n.1657C>T
NR_045581.1:n.1628C>T
NR_045582.1:n.1565C>T
NR_045583.1:n.1544C>T
NR_045584.1:n.1657C>T
XM_011532174.1:c.1419C>T	XP_011530476.1:p.Leu473=
XM_011532175.1:c.1350C>T	XP_011530477.1:p.Leu450=
XM_011532176.1:c.1269C>T	XP_011530478.1:p.Leu423=
XM_011532177.1:c.1179C>T	XP_011530479.1:p.Leu393=
XM_011532178.1:c.1179C>T	XP_011530480.1:p.Leu393=
XM_011532179.1:c.1196+5803C>T	XP_011530481.1:n.1196+5803C>T
NM_001363776.1:c.1098C>T	NP_001350705.1:p.Leu366=
XM_011532176.2:c.1269C>T	XP_011530478.1:p.Leu423=
XM_011532179.2:c.1196+5803C>T	XP_011530481.1:n.1196+5803C>T
XM_017008517.1:c.1347C>T	XP_016864006.1:p.Leu449=
XM_017008518.2:c.1338C>T	XP_016864007.1:p.Leu446=
XM_017008519.1:c.1179C>T	XP_016864008.1:p.Leu393=
XM_017008520.1:c.1179C>T	XP_016864009.1:p.Leu393=
XM_017008522.1:c.1095C>T	XP_016864011.1:p.Leu365=
XM_017008523.2:c.1115+5803C>T	XP_016864012.1:n.1115+5803C>T
XM_017008524.2:c.1043+5803C>T	XP_016864013.1:n.1043+5803C>T
XM_017008525.1:c.1016+5803C>T	XP_016864014.1:n.1016+5803C>T
XM_017008526.1:c.873C>T	XP_016864015.1:p.Leu291=
NM_021634.4:c.1341C>T MANE Select	NP_067647.2:p.Leu447=
NM_001253728.2:c.1242C>T	NP_001240657.1:p.Leu414=
NM_001253729.2:c.1197C>T	NP_001240658.1:p.Leu399=
NM_001253732.2:c.945C>T	NP_001240661.1:p.Leu315=
NR_045579.2:n.2053C>T
NR_045580.2:n.1489C>T
NR_045581.2:n.1460C>T
NR_045582.2:n.1397C>T
NR_045583.2:n.1376C>T
NR_045584.2:n.1489C>T
NM_001253727.2:c.1422C>T	NP_001240656.1:p.Leu474=
NM_001253730.2:c.948C>T	NP_001240659.1:p.Leu316=
NM_001253733.2:c.873C>T	NP_001240662.1:p.Leu291=