Canonical Allele Identifier: CA2644165588
Gene: RSRP1 HGNC NCBI

Linked Data

gnomAD v4: 1-25243698-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25243698A>G , CM000663.2:g.25243698A>G GRCh38
NC_000001.10:g.25570189A>G , CM000663.1:g.25570189A>G GRCh37
NC_000001.9:g.25442776A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000243189.12:c.673-65T>C MANE Select ENSP00000243189.7:n.673-65T>C
ENST00000243189.11:c.673-65T>C ENSP00000243189.7:n.673-65T>C
ENST00000473314.6:c.*563T>C ENSP00000457582.1:n.*563T>C
ENST00000475766.2:n.224-65T>C
ENST00000498238.1:n.2336T>C
ENST00000565733.5:c.350-65T>C
ENST00000566395.5:c.290-65T>C
ENST00000568254.5:c.*518T>C ENSP00000457195.1:n.*518T>C
ENST00000569495.5:n.408T>C
ENST00000570063.5:n.1310-65T>C
NM_020317.3:c.673-65T>C NP_064713.3:n.673-65T>C
XM_011541797.1:c.673-65T>C XP_011540099.1:n.673-65T>C
XM_011541798.1:c.*36-65T>C XP_011540100.1:n.*36-65T>C
XR_241200.1:n.1521T>C
XR_241201.1:n.995-65T>C
XR_946709.1:n.2172T>C
XR_946710.1:n.1919-65T>C
XR_946711.1:n.1646-65T>C
XR_946712.1:n.1750T>C
XR_946713.1:n.1476T>C
NM_001321772.1:c.673-65T>C NP_001308701.1:n.673-65T>C
NM_020317.4:c.673-65T>C NP_064713.3:n.673-65T>C
NR_135143.1:n.2401T>C
NR_135144.1:n.1476T>C
NR_135777.1:n.2376T>C
NR_135778.1:n.1750T>C
NR_135780.1:n.1919-65T>C
NR_135781.1:n.1521T>C
NR_135782.1:n.1268-65T>C
NR_135783.1:n.995-65T>C
NR_135784.1:n.2401T>C
NR_135785.1:n.994-65T>C
NR_135786.1:n.2401T>C
NR_135787.1:n.2525T>C
NR_135788.1:n.2467T>C
NR_135789.1:n.3405T>C
XR_946709.2:n.2138T>C
NM_020317.5:c.673-65T>C MANE Select NP_064713.3:n.673-65T>C
NR_135784.2:n.2336T>C
NR_135786.2:n.2336T>C
NM_001321772.2:c.673-65T>C NP_001308701.1:n.673-65T>C
NR_135143.2:n.2336T>C
NR_135144.2:n.1411T>C
NR_135777.2:n.2376T>C
NR_135778.2:n.1685T>C
NR_135780.2:n.1854-65T>C
NR_135781.2:n.1456T>C
NR_135782.2:n.1203-65T>C
NR_135783.2:n.930-65T>C
NR_135785.2:n.929-65T>C
NR_135787.2:n.2525T>C
NR_135788.2:n.2467T>C
NR_135789.2:n.3405T>C