Canonical Allele Identifier: CA339062723

Gene: RSRP1

Linked Data

• dbSNP Id: rs146247420
• gnomAD v2: 1-25570104-T-G
• gnomAD v4: 1-25243613-T-G
• MyVariant Identifiers: chr1:g.25570104T>G (hg19) ; chr1:g.25243613T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25243613T>G , CM000663.2:g.25243613T>G	GRCh38
NC_000001.10:g.25570104T>G , CM000663.1:g.25570104T>G	GRCh37
NC_000001.9:g.25442691T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243189.12:c.693A>C MANE Select	ENSP00000243189.7:p.Glu231Asp
ENST00000243189.11:c.693A>C	ENSP00000243189.7:p.Glu231Asp
ENST00000473314.6:c.*648A>C	ENSP00000457582.1:n.*648A>C
ENST00000475766.2:n.244A>C
ENST00000498238.1:n.2421A>C
ENST00000564223.5:n.42A>C
ENST00000565733.5:c.370A>C
ENST00000566395.5:c.310A>C
ENST00000568254.5:c.*603A>C	ENSP00000457195.1:n.*603A>C
ENST00000569495.5:n.493A>C
ENST00000570063.5:n.1330A>C
NM_020317.3:c.693A>C	NP_064713.3:p.Glu231Asp
XM_011541797.1:c.693A>C	XP_011540099.1:p.Glu231Asp
XM_011541798.1:c.*56A>C	XP_011540100.1:n.*56A>C
XR_241200.1:n.1606A>C
XR_241201.1:n.1015A>C
XR_946709.1:n.2257A>C
XR_946710.1:n.1939A>C
XR_946711.1:n.1666A>C
XR_946712.1:n.1835A>C
XR_946713.1:n.1561A>C
NM_001321772.1:c.693A>C	NP_001308701.1:p.Glu231Asp
NM_020317.4:c.693A>C	NP_064713.3:p.Glu231Asp
NR_135143.1:n.2486A>C
NR_135144.1:n.1561A>C
NR_135777.1:n.2461A>C
NR_135778.1:n.1835A>C
NR_135780.1:n.1939A>C
NR_135781.1:n.1606A>C
NR_135782.1:n.1288A>C
NR_135783.1:n.1015A>C
NR_135784.1:n.2486A>C
NR_135785.1:n.1014A>C
NR_135786.1:n.2486A>C
NR_135787.1:n.2610A>C
NR_135788.1:n.2552A>C
NR_135789.1:n.3490A>C
XR_946709.2:n.2223A>C
NM_020317.5:c.693A>C MANE Select	NP_064713.3:p.Glu231Asp
NR_135784.2:n.2421A>C
NR_135786.2:n.2421A>C
NM_001321772.2:c.693A>C	NP_001308701.1:p.Glu231Asp
NR_135143.2:n.2421A>C
NR_135144.2:n.1496A>C
NR_135777.2:n.2461A>C
NR_135778.2:n.1770A>C
NR_135780.2:n.1874A>C
NR_135781.2:n.1541A>C
NR_135782.2:n.1223A>C
NR_135783.2:n.950A>C
NR_135785.2:n.949A>C
NR_135787.2:n.2610A>C
NR_135788.2:n.2552A>C
NR_135789.2:n.3490A>C