Canonical Allele Identifier: CA339062739

Gene: RSRP1

Linked Data

• MyVariant Identifiers: chr1:g.25570108G>C (hg19) ; chr1:g.25243617G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25243617G>C , CM000663.2:g.25243617G>C	GRCh38
NC_000001.10:g.25570108G>C , CM000663.1:g.25570108G>C	GRCh37
NC_000001.9:g.25442695G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243189.12:c.689C>G MANE Select	ENSP00000243189.7:p.Thr230Arg
ENST00000243189.11:c.689C>G	ENSP00000243189.7:p.Thr230Arg
ENST00000473314.6:c.*644C>G	ENSP00000457582.1:n.*644C>G
ENST00000475766.2:n.240C>G
ENST00000498238.1:n.2417C>G
ENST00000564223.5:n.38C>G
ENST00000565733.5:c.366C>G
ENST00000566395.5:c.306C>G
ENST00000568254.5:c.*599C>G	ENSP00000457195.1:n.*599C>G
ENST00000569495.5:n.489C>G
ENST00000570063.5:n.1326C>G
NM_020317.3:c.689C>G	NP_064713.3:p.Thr230Arg
XM_011541797.1:c.689C>G	XP_011540099.1:p.Thr230Arg
XM_011541798.1:c.*52C>G	XP_011540100.1:n.*52C>G
XR_241200.1:n.1602C>G
XR_241201.1:n.1011C>G
XR_946709.1:n.2253C>G
XR_946710.1:n.1935C>G
XR_946711.1:n.1662C>G
XR_946712.1:n.1831C>G
XR_946713.1:n.1557C>G
NM_001321772.1:c.689C>G	NP_001308701.1:p.Thr230Arg
NM_020317.4:c.689C>G	NP_064713.3:p.Thr230Arg
NR_135143.1:n.2482C>G
NR_135144.1:n.1557C>G
NR_135777.1:n.2457C>G
NR_135778.1:n.1831C>G
NR_135780.1:n.1935C>G
NR_135781.1:n.1602C>G
NR_135782.1:n.1284C>G
NR_135783.1:n.1011C>G
NR_135784.1:n.2482C>G
NR_135785.1:n.1010C>G
NR_135786.1:n.2482C>G
NR_135787.1:n.2606C>G
NR_135788.1:n.2548C>G
NR_135789.1:n.3486C>G
XR_946709.2:n.2219C>G
NM_020317.5:c.689C>G MANE Select	NP_064713.3:p.Thr230Arg
NR_135784.2:n.2417C>G
NR_135786.2:n.2417C>G
NM_001321772.2:c.689C>G	NP_001308701.1:p.Thr230Arg
NR_135143.2:n.2417C>G
NR_135144.2:n.1492C>G
NR_135777.2:n.2457C>G
NR_135778.2:n.1766C>G
NR_135780.2:n.1870C>G
NR_135781.2:n.1537C>G
NR_135782.2:n.1219C>G
NR_135783.2:n.946C>G
NR_135785.2:n.945C>G
NR_135787.2:n.2606C>G
NR_135788.2:n.2548C>G
NR_135789.2:n.3486C>G