Canonical Allele Identifier: CA2644165583
Gene: RSRP1 HGNC NCBI

Linked Data

gnomAD v4: 1-25243688-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25243688T>G , CM000663.2:g.25243688T>G GRCh38
NC_000001.10:g.25570179T>G , CM000663.1:g.25570179T>G GRCh37
NC_000001.9:g.25442766T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000243189.12:c.673-55A>C MANE Select ENSP00000243189.7:n.673-55A>C
ENST00000243189.11:c.673-55A>C ENSP00000243189.7:n.673-55A>C
ENST00000473314.6:c.*573A>C ENSP00000457582.1:n.*573A>C
ENST00000475766.2:n.224-55A>C
ENST00000498238.1:n.2346A>C
ENST00000565733.5:c.350-55A>C
ENST00000566395.5:c.290-55A>C
ENST00000568254.5:c.*528A>C ENSP00000457195.1:n.*528A>C
ENST00000569495.5:n.418A>C
ENST00000570063.5:n.1310-55A>C
NM_020317.3:c.673-55A>C NP_064713.3:n.673-55A>C
XM_011541797.1:c.673-55A>C XP_011540099.1:n.673-55A>C
XM_011541798.1:c.*36-55A>C XP_011540100.1:n.*36-55A>C
XR_241200.1:n.1531A>C
XR_241201.1:n.995-55A>C
XR_946709.1:n.2182A>C
XR_946710.1:n.1919-55A>C
XR_946711.1:n.1646-55A>C
XR_946712.1:n.1760A>C
XR_946713.1:n.1486A>C
NM_001321772.1:c.673-55A>C NP_001308701.1:n.673-55A>C
NM_020317.4:c.673-55A>C NP_064713.3:n.673-55A>C
NR_135143.1:n.2411A>C
NR_135144.1:n.1486A>C
NR_135777.1:n.2386A>C
NR_135778.1:n.1760A>C
NR_135780.1:n.1919-55A>C
NR_135781.1:n.1531A>C
NR_135782.1:n.1268-55A>C
NR_135783.1:n.995-55A>C
NR_135784.1:n.2411A>C
NR_135785.1:n.994-55A>C
NR_135786.1:n.2411A>C
NR_135787.1:n.2535A>C
NR_135788.1:n.2477A>C
NR_135789.1:n.3415A>C
XR_946709.2:n.2148A>C
NM_020317.5:c.673-55A>C MANE Select NP_064713.3:n.673-55A>C
NR_135784.2:n.2346A>C
NR_135786.2:n.2346A>C
NM_001321772.2:c.673-55A>C NP_001308701.1:n.673-55A>C
NR_135143.2:n.2346A>C
NR_135144.2:n.1421A>C
NR_135777.2:n.2386A>C
NR_135778.2:n.1695A>C
NR_135780.2:n.1854-55A>C
NR_135781.2:n.1466A>C
NR_135782.2:n.1203-55A>C
NR_135783.2:n.930-55A>C
NR_135785.2:n.929-55A>C
NR_135787.2:n.2535A>C
NR_135788.2:n.2477A>C
NR_135789.2:n.3415A>C