Canonical Allele Identifier: CA339062681
Gene: RSRP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25243605G>T , CM000663.2:g.25243605G>T GRCh38
NC_000001.10:g.25570096G>T , CM000663.1:g.25570096G>T GRCh37
NC_000001.9:g.25442683G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000243189.12:c.701C>A MANE Select ENSP00000243189.7:p.Thr234Asn
ENST00000243189.11:c.701C>A ENSP00000243189.7:p.Thr234Asn
ENST00000473314.6:c.*656C>A ENSP00000457582.1:n.*656C>A
ENST00000475766.2:n.252C>A
ENST00000498238.1:n.2429C>A
ENST00000564223.5:n.50C>A
ENST00000565733.5:c.378C>A
ENST00000566395.5:c.318C>A
ENST00000568254.5:c.*611C>A ENSP00000457195.1:n.*611C>A
ENST00000569495.5:n.501C>A
ENST00000570063.5:n.1338C>A
NM_020317.3:c.701C>A NP_064713.3:p.Thr234Asn
XM_011541797.1:c.701C>A XP_011540099.1:p.Thr234Asn
XM_011541798.1:c.*64C>A XP_011540100.1:n.*64C>A
XR_241200.1:n.1614C>A
XR_241201.1:n.1023C>A
XR_946709.1:n.2265C>A
XR_946710.1:n.1947C>A
XR_946711.1:n.1674C>A
XR_946712.1:n.1843C>A
XR_946713.1:n.1569C>A
NM_001321772.1:c.701C>A NP_001308701.1:p.Thr234Asn
NM_020317.4:c.701C>A NP_064713.3:p.Thr234Asn
NR_135143.1:n.2494C>A
NR_135144.1:n.1569C>A
NR_135777.1:n.2469C>A
NR_135778.1:n.1843C>A
NR_135780.1:n.1947C>A
NR_135781.1:n.1614C>A
NR_135782.1:n.1296C>A
NR_135783.1:n.1023C>A
NR_135784.1:n.2494C>A
NR_135785.1:n.1022C>A
NR_135786.1:n.2494C>A
NR_135787.1:n.2618C>A
NR_135788.1:n.2560C>A
NR_135789.1:n.3498C>A
XR_946709.2:n.2231C>A
NM_020317.5:c.701C>A MANE Select NP_064713.3:p.Thr234Asn
NR_135784.2:n.2429C>A
NR_135786.2:n.2429C>A
NM_001321772.2:c.701C>A NP_001308701.1:p.Thr234Asn
NR_135143.2:n.2429C>A
NR_135144.2:n.1504C>A
NR_135777.2:n.2469C>A
NR_135778.2:n.1778C>A
NR_135780.2:n.1882C>A
NR_135781.2:n.1549C>A
NR_135782.2:n.1231C>A
NR_135783.2:n.958C>A
NR_135785.2:n.957C>A
NR_135787.2:n.2618C>A
NR_135788.2:n.2560C>A
NR_135789.2:n.3498C>A