Canonical Allele Identifier: CA2644165577

Gene: RSRP1

Linked Data

• gnomAD v4: 1-25243675-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25243675C>G , CM000663.2:g.25243675C>G	GRCh38
NC_000001.10:g.25570166C>G , CM000663.1:g.25570166C>G	GRCh37
NC_000001.9:g.25442753C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243189.12:c.673-42G>C MANE Select	ENSP00000243189.7:n.673-42G>C
ENST00000243189.11:c.673-42G>C	ENSP00000243189.7:n.673-42G>C
ENST00000473314.6:c.*586G>C	ENSP00000457582.1:n.*586G>C
ENST00000475766.2:n.224-42G>C
ENST00000498238.1:n.2359G>C
ENST00000565733.5:c.350-42G>C
ENST00000566395.5:c.290-42G>C
ENST00000568254.5:c.*541G>C	ENSP00000457195.1:n.*541G>C
ENST00000569495.5:n.431G>C
ENST00000570063.5:n.1310-42G>C
NM_020317.3:c.673-42G>C	NP_064713.3:n.673-42G>C
XM_011541797.1:c.673-42G>C	XP_011540099.1:n.673-42G>C
XM_011541798.1:c.*36-42G>C	XP_011540100.1:n.*36-42G>C
XR_241200.1:n.1544G>C
XR_241201.1:n.995-42G>C
XR_946709.1:n.2195G>C
XR_946710.1:n.1919-42G>C
XR_946711.1:n.1646-42G>C
XR_946712.1:n.1773G>C
XR_946713.1:n.1499G>C
NM_001321772.1:c.673-42G>C	NP_001308701.1:n.673-42G>C
NM_020317.4:c.673-42G>C	NP_064713.3:n.673-42G>C
NR_135143.1:n.2424G>C
NR_135144.1:n.1499G>C
NR_135777.1:n.2399G>C
NR_135778.1:n.1773G>C
NR_135780.1:n.1919-42G>C
NR_135781.1:n.1544G>C
NR_135782.1:n.1268-42G>C
NR_135783.1:n.995-42G>C
NR_135784.1:n.2424G>C
NR_135785.1:n.994-42G>C
NR_135786.1:n.2424G>C
NR_135787.1:n.2548G>C
NR_135788.1:n.2490G>C
NR_135789.1:n.3428G>C
XR_946709.2:n.2161G>C
NM_020317.5:c.673-42G>C MANE Select	NP_064713.3:n.673-42G>C
NR_135784.2:n.2359G>C
NR_135786.2:n.2359G>C
NM_001321772.2:c.673-42G>C	NP_001308701.1:n.673-42G>C
NR_135143.2:n.2359G>C
NR_135144.2:n.1434G>C
NR_135777.2:n.2399G>C
NR_135778.2:n.1708G>C
NR_135780.2:n.1854-42G>C
NR_135781.2:n.1479G>C
NR_135782.2:n.1203-42G>C
NR_135783.2:n.930-42G>C
NR_135785.2:n.929-42G>C
NR_135787.2:n.2548G>C
NR_135788.2:n.2490G>C
NR_135789.2:n.3428G>C