Canonical Allele Identifier: CA2644165582

Gene: RSRP1

Linked Data

• gnomAD v4: 1-25243687-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25243687A>G , CM000663.2:g.25243687A>G	GRCh38
NC_000001.10:g.25570178A>G , CM000663.1:g.25570178A>G	GRCh37
NC_000001.9:g.25442765A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243189.12:c.673-54T>C MANE Select	ENSP00000243189.7:n.673-54T>C
ENST00000243189.11:c.673-54T>C	ENSP00000243189.7:n.673-54T>C
ENST00000473314.6:c.*574T>C	ENSP00000457582.1:n.*574T>C
ENST00000475766.2:n.224-54T>C
ENST00000498238.1:n.2347T>C
ENST00000565733.5:c.350-54T>C
ENST00000566395.5:c.290-54T>C
ENST00000568254.5:c.*529T>C	ENSP00000457195.1:n.*529T>C
ENST00000569495.5:n.419T>C
ENST00000570063.5:n.1310-54T>C
NM_020317.3:c.673-54T>C	NP_064713.3:n.673-54T>C
XM_011541797.1:c.673-54T>C	XP_011540099.1:n.673-54T>C
XM_011541798.1:c.*36-54T>C	XP_011540100.1:n.*36-54T>C
XR_241200.1:n.1532T>C
XR_241201.1:n.995-54T>C
XR_946709.1:n.2183T>C
XR_946710.1:n.1919-54T>C
XR_946711.1:n.1646-54T>C
XR_946712.1:n.1761T>C
XR_946713.1:n.1487T>C
NM_001321772.1:c.673-54T>C	NP_001308701.1:n.673-54T>C
NM_020317.4:c.673-54T>C	NP_064713.3:n.673-54T>C
NR_135143.1:n.2412T>C
NR_135144.1:n.1487T>C
NR_135777.1:n.2387T>C
NR_135778.1:n.1761T>C
NR_135780.1:n.1919-54T>C
NR_135781.1:n.1532T>C
NR_135782.1:n.1268-54T>C
NR_135783.1:n.995-54T>C
NR_135784.1:n.2412T>C
NR_135785.1:n.994-54T>C
NR_135786.1:n.2412T>C
NR_135787.1:n.2536T>C
NR_135788.1:n.2478T>C
NR_135789.1:n.3416T>C
XR_946709.2:n.2149T>C
NM_020317.5:c.673-54T>C MANE Select	NP_064713.3:n.673-54T>C
NR_135784.2:n.2347T>C
NR_135786.2:n.2347T>C
NM_001321772.2:c.673-54T>C	NP_001308701.1:n.673-54T>C
NR_135143.2:n.2347T>C
NR_135144.2:n.1422T>C
NR_135777.2:n.2387T>C
NR_135778.2:n.1696T>C
NR_135780.2:n.1854-54T>C
NR_135781.2:n.1467T>C
NR_135782.2:n.1203-54T>C
NR_135783.2:n.930-54T>C
NR_135785.2:n.929-54T>C
NR_135787.2:n.2536T>C
NR_135788.2:n.2478T>C
NR_135789.2:n.3416T>C