Canonical Allele Identifier: CA339062618

Gene: RSRP1

Linked Data

• MyVariant Identifiers: chr1:g.25570082C>A (hg19) ; chr1:g.25243591C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25243591C>A , CM000663.2:g.25243591C>A	GRCh38
NC_000001.10:g.25570082C>A , CM000663.1:g.25570082C>A	GRCh37
NC_000001.9:g.25442669C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000243189.12:c.715G>T MANE Select	ENSP00000243189.7:p.Glu239Ter
ENST00000243189.11:c.715G>T	ENSP00000243189.7:p.Glu239Ter
ENST00000473314.6:c.*670G>T	ENSP00000457582.1:n.*670G>T
ENST00000475766.2:n.266G>T
ENST00000498238.1:n.2443G>T
ENST00000564223.5:n.64G>T
ENST00000565733.5:c.392G>T
ENST00000566395.5:c.332G>T
ENST00000568254.5:c.*625G>T	ENSP00000457195.1:n.*625G>T
ENST00000569495.5:n.515G>T
ENST00000570063.5:n.1352G>T
NM_020317.3:c.715G>T	NP_064713.3:p.Glu239Ter
XM_011541797.1:c.715G>T	XP_011540099.1:p.Glu239Ter
XM_011541798.1:c.*78G>T	XP_011540100.1:n.*78G>T
XR_241200.1:n.1628G>T
XR_241201.1:n.1037G>T
XR_946709.1:n.2279G>T
XR_946710.1:n.1961G>T
XR_946711.1:n.1688G>T
XR_946712.1:n.1857G>T
XR_946713.1:n.1583G>T
NM_001321772.1:c.715G>T	NP_001308701.1:p.Glu239Ter
NM_020317.4:c.715G>T	NP_064713.3:p.Glu239Ter
NR_135143.1:n.2508G>T
NR_135144.1:n.1583G>T
NR_135777.1:n.2483G>T
NR_135778.1:n.1857G>T
NR_135780.1:n.1961G>T
NR_135781.1:n.1628G>T
NR_135782.1:n.1310G>T
NR_135783.1:n.1037G>T
NR_135784.1:n.2508G>T
NR_135785.1:n.1036G>T
NR_135786.1:n.2508G>T
NR_135787.1:n.2632G>T
NR_135788.1:n.2574G>T
NR_135789.1:n.3512G>T
XR_946709.2:n.2245G>T
NM_020317.5:c.715G>T MANE Select	NP_064713.3:p.Glu239Ter
NR_135784.2:n.2443G>T
NR_135786.2:n.2443G>T
NM_001321772.2:c.715G>T	NP_001308701.1:p.Glu239Ter
NR_135143.2:n.2443G>T
NR_135144.2:n.1518G>T
NR_135777.2:n.2483G>T
NR_135778.2:n.1792G>T
NR_135780.2:n.1896G>T
NR_135781.2:n.1563G>T
NR_135782.2:n.1245G>T
NR_135783.2:n.972G>T
NR_135785.2:n.971G>T
NR_135787.2:n.2632G>T
NR_135788.2:n.2574G>T
NR_135789.2:n.3512G>T