Canonical Allele Identifier: CA693572

Gene: RSRP1

Linked Data

• dbSNP Id: rs768925594
• ExAC: 1:25570126 T / A
• gnomAD v4: 1-25243635-T-A
• MyVariant Identifiers: chr1:g.25570126T>A (hg19) ; chr1:g.25243635T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25243635T>A , CM000663.2:g.25243635T>A	GRCh38
NC_000001.10:g.25570126T>A , CM000663.1:g.25570126T>A	GRCh37
NC_000001.9:g.25442713T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243189.12:c.673-2A>T MANE Select	ENSP00000243189.7:n.673-2A>T
ENST00000243189.11:c.673-2A>T	ENSP00000243189.7:n.673-2A>T
ENST00000473314.6:c.*626A>T	ENSP00000457582.1:n.*626A>T
ENST00000475766.2:n.224-2A>T
ENST00000498238.1:n.2399A>T
ENST00000564223.5:n.20A>T
ENST00000565733.5:c.350-2A>T
ENST00000566395.5:c.290-2A>T
ENST00000568254.5:c.*581A>T	ENSP00000457195.1:n.*581A>T
ENST00000569495.5:n.471A>T
ENST00000570063.5:n.1310-2A>T
NM_020317.3:c.673-2A>T	NP_064713.3:n.673-2A>T
XM_011541797.1:c.673-2A>T	XP_011540099.1:n.673-2A>T
XM_011541798.1:c.*36-2A>T	XP_011540100.1:n.*36-2A>T
XR_241200.1:n.1584A>T
XR_241201.1:n.995-2A>T
XR_946709.1:n.2235A>T
XR_946710.1:n.1919-2A>T
XR_946711.1:n.1646-2A>T
XR_946712.1:n.1813A>T
XR_946713.1:n.1539A>T
NM_001321772.1:c.673-2A>T	NP_001308701.1:n.673-2A>T
NM_020317.4:c.673-2A>T	NP_064713.3:n.673-2A>T
NR_135143.1:n.2464A>T
NR_135144.1:n.1539A>T
NR_135777.1:n.2439A>T
NR_135778.1:n.1813A>T
NR_135780.1:n.1919-2A>T
NR_135781.1:n.1584A>T
NR_135782.1:n.1268-2A>T
NR_135783.1:n.995-2A>T
NR_135784.1:n.2464A>T
NR_135785.1:n.994-2A>T
NR_135786.1:n.2464A>T
NR_135787.1:n.2588A>T
NR_135788.1:n.2530A>T
NR_135789.1:n.3468A>T
XR_946709.2:n.2201A>T
NM_020317.5:c.673-2A>T MANE Select	NP_064713.3:n.673-2A>T
NR_135784.2:n.2399A>T
NR_135786.2:n.2399A>T
NM_001321772.2:c.673-2A>T	NP_001308701.1:n.673-2A>T
NR_135143.2:n.2399A>T
NR_135144.2:n.1474A>T
NR_135777.2:n.2439A>T
NR_135778.2:n.1748A>T
NR_135780.2:n.1854-2A>T
NR_135781.2:n.1519A>T
NR_135782.2:n.1203-2A>T
NR_135783.2:n.930-2A>T
NR_135785.2:n.929-2A>T
NR_135787.2:n.2588A>T
NR_135788.2:n.2530A>T
NR_135789.2:n.3468A>T