Canonical Allele Identifier: CA339062693

Gene: RSRP1

Linked Data

• gnomAD v4: 1-25243608-C-T
• MyVariant Identifiers: chr1:g.25570099C>T (hg19) ; chr1:g.25243608C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25243608C>T , CM000663.2:g.25243608C>T	GRCh38
NC_000001.10:g.25570099C>T , CM000663.1:g.25570099C>T	GRCh37
NC_000001.9:g.25442686C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243189.12:c.698G>A MANE Select	ENSP00000243189.7:p.Gly233Glu
ENST00000243189.11:c.698G>A	ENSP00000243189.7:p.Gly233Glu
ENST00000473314.6:c.*653G>A	ENSP00000457582.1:n.*653G>A
ENST00000475766.2:n.249G>A
ENST00000498238.1:n.2426G>A
ENST00000564223.5:n.47G>A
ENST00000565733.5:c.375G>A
ENST00000566395.5:c.315G>A
ENST00000568254.5:c.*608G>A	ENSP00000457195.1:n.*608G>A
ENST00000569495.5:n.498G>A
ENST00000570063.5:n.1335G>A
NM_020317.3:c.698G>A	NP_064713.3:p.Gly233Glu
XM_011541797.1:c.698G>A	XP_011540099.1:p.Gly233Glu
XM_011541798.1:c.*61G>A	XP_011540100.1:n.*61G>A
XR_241200.1:n.1611G>A
XR_241201.1:n.1020G>A
XR_946709.1:n.2262G>A
XR_946710.1:n.1944G>A
XR_946711.1:n.1671G>A
XR_946712.1:n.1840G>A
XR_946713.1:n.1566G>A
NM_001321772.1:c.698G>A	NP_001308701.1:p.Gly233Glu
NM_020317.4:c.698G>A	NP_064713.3:p.Gly233Glu
NR_135143.1:n.2491G>A
NR_135144.1:n.1566G>A
NR_135777.1:n.2466G>A
NR_135778.1:n.1840G>A
NR_135780.1:n.1944G>A
NR_135781.1:n.1611G>A
NR_135782.1:n.1293G>A
NR_135783.1:n.1020G>A
NR_135784.1:n.2491G>A
NR_135785.1:n.1019G>A
NR_135786.1:n.2491G>A
NR_135787.1:n.2615G>A
NR_135788.1:n.2557G>A
NR_135789.1:n.3495G>A
XR_946709.2:n.2228G>A
NM_020317.5:c.698G>A MANE Select	NP_064713.3:p.Gly233Glu
NR_135784.2:n.2426G>A
NR_135786.2:n.2426G>A
NM_001321772.2:c.698G>A	NP_001308701.1:p.Gly233Glu
NR_135143.2:n.2426G>A
NR_135144.2:n.1501G>A
NR_135777.2:n.2466G>A
NR_135778.2:n.1775G>A
NR_135780.2:n.1879G>A
NR_135781.2:n.1546G>A
NR_135782.2:n.1228G>A
NR_135783.2:n.955G>A
NR_135785.2:n.954G>A
NR_135787.2:n.2615G>A
NR_135788.2:n.2557G>A
NR_135789.2:n.3495G>A