Canonical Allele Identifier: CA521692343

Gene: RSRP1

Linked Data

• dbSNP Id: rs1392826342
• gnomAD v2: 1-25570188-A-T
• gnomAD v3: 1-25243697-A-T
• gnomAD v4: 1-25243697-A-T
• MyVariant Identifiers: chr1:g.25570188A>T (hg19) ; chr1:g.25243697A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25243697A>T , CM000663.2:g.25243697A>T	GRCh38
NC_000001.10:g.25570188A>T , CM000663.1:g.25570188A>T	GRCh37
NC_000001.9:g.25442775A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243189.12:c.673-64T>A MANE Select	ENSP00000243189.7:n.673-64T>A
ENST00000243189.11:c.673-64T>A	ENSP00000243189.7:n.673-64T>A
ENST00000473314.6:c.*564T>A	ENSP00000457582.1:n.*564T>A
ENST00000475766.2:n.224-64T>A
ENST00000498238.1:n.2337T>A
ENST00000565733.5:c.350-64T>A
ENST00000566395.5:c.290-64T>A
ENST00000568254.5:c.*519T>A	ENSP00000457195.1:n.*519T>A
ENST00000569495.5:n.409T>A
ENST00000570063.5:n.1310-64T>A
NM_020317.3:c.673-64T>A	NP_064713.3:n.673-64T>A
XM_011541797.1:c.673-64T>A	XP_011540099.1:n.673-64T>A
XM_011541798.1:c.*36-64T>A	XP_011540100.1:n.*36-64T>A
XR_241200.1:n.1522T>A
XR_241201.1:n.995-64T>A
XR_946709.1:n.2173T>A
XR_946710.1:n.1919-64T>A
XR_946711.1:n.1646-64T>A
XR_946712.1:n.1751T>A
XR_946713.1:n.1477T>A
NM_001321772.1:c.673-64T>A	NP_001308701.1:n.673-64T>A
NM_020317.4:c.673-64T>A	NP_064713.3:n.673-64T>A
NR_135143.1:n.2402T>A
NR_135144.1:n.1477T>A
NR_135777.1:n.2377T>A
NR_135778.1:n.1751T>A
NR_135780.1:n.1919-64T>A
NR_135781.1:n.1522T>A
NR_135782.1:n.1268-64T>A
NR_135783.1:n.995-64T>A
NR_135784.1:n.2402T>A
NR_135785.1:n.994-64T>A
NR_135786.1:n.2402T>A
NR_135787.1:n.2526T>A
NR_135788.1:n.2468T>A
NR_135789.1:n.3406T>A
XR_946709.2:n.2139T>A
NM_020317.5:c.673-64T>A MANE Select	NP_064713.3:n.673-64T>A
NR_135784.2:n.2337T>A
NR_135786.2:n.2337T>A
NM_001321772.2:c.673-64T>A	NP_001308701.1:n.673-64T>A
NR_135143.2:n.2337T>A
NR_135144.2:n.1412T>A
NR_135777.2:n.2377T>A
NR_135778.2:n.1686T>A
NR_135780.2:n.1854-64T>A
NR_135781.2:n.1457T>A
NR_135782.2:n.1203-64T>A
NR_135783.2:n.930-64T>A
NR_135785.2:n.929-64T>A
NR_135787.2:n.2526T>A
NR_135788.2:n.2468T>A
NR_135789.2:n.3406T>A