Canonical Allele Identifier: CA521692336

Gene: RSRP1

Linked Data

• dbSNP Id: rs1409569951
• gnomAD v2: 1-25570174-C-T
• gnomAD v4: 1-25243683-C-T
• MyVariant Identifiers: chr1:g.25570174C>T (hg19) ; chr1:g.25243683C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25243683C>T , CM000663.2:g.25243683C>T	GRCh38
NC_000001.10:g.25570174C>T , CM000663.1:g.25570174C>T	GRCh37
NC_000001.9:g.25442761C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243189.12:c.673-50G>A MANE Select	ENSP00000243189.7:n.673-50G>A
ENST00000243189.11:c.673-50G>A	ENSP00000243189.7:n.673-50G>A
ENST00000473314.6:c.*578G>A	ENSP00000457582.1:n.*578G>A
ENST00000475766.2:n.224-50G>A
ENST00000498238.1:n.2351G>A
ENST00000565733.5:c.350-50G>A
ENST00000566395.5:c.290-50G>A
ENST00000568254.5:c.*533G>A	ENSP00000457195.1:n.*533G>A
ENST00000569495.5:n.423G>A
ENST00000570063.5:n.1310-50G>A
NM_020317.3:c.673-50G>A	NP_064713.3:n.673-50G>A
XM_011541797.1:c.673-50G>A	XP_011540099.1:n.673-50G>A
XM_011541798.1:c.*36-50G>A	XP_011540100.1:n.*36-50G>A
XR_241200.1:n.1536G>A
XR_241201.1:n.995-50G>A
XR_946709.1:n.2187G>A
XR_946710.1:n.1919-50G>A
XR_946711.1:n.1646-50G>A
XR_946712.1:n.1765G>A
XR_946713.1:n.1491G>A
NM_001321772.1:c.673-50G>A	NP_001308701.1:n.673-50G>A
NM_020317.4:c.673-50G>A	NP_064713.3:n.673-50G>A
NR_135143.1:n.2416G>A
NR_135144.1:n.1491G>A
NR_135777.1:n.2391G>A
NR_135778.1:n.1765G>A
NR_135780.1:n.1919-50G>A
NR_135781.1:n.1536G>A
NR_135782.1:n.1268-50G>A
NR_135783.1:n.995-50G>A
NR_135784.1:n.2416G>A
NR_135785.1:n.994-50G>A
NR_135786.1:n.2416G>A
NR_135787.1:n.2540G>A
NR_135788.1:n.2482G>A
NR_135789.1:n.3420G>A
XR_946709.2:n.2153G>A
NM_020317.5:c.673-50G>A MANE Select	NP_064713.3:n.673-50G>A
NR_135784.2:n.2351G>A
NR_135786.2:n.2351G>A
NM_001321772.2:c.673-50G>A	NP_001308701.1:n.673-50G>A
NR_135143.2:n.2351G>A
NR_135144.2:n.1426G>A
NR_135777.2:n.2391G>A
NR_135778.2:n.1700G>A
NR_135780.2:n.1854-50G>A
NR_135781.2:n.1471G>A
NR_135782.2:n.1203-50G>A
NR_135783.2:n.930-50G>A
NR_135785.2:n.929-50G>A
NR_135787.2:n.2540G>A
NR_135788.2:n.2482G>A
NR_135789.2:n.3420G>A