Canonical Allele Identifier: CA2644165585

Gene: RSRP1

Linked Data

• gnomAD v4: 1-25243689-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25243689C>A , CM000663.2:g.25243689C>A	GRCh38
NC_000001.10:g.25570180C>A , CM000663.1:g.25570180C>A	GRCh37
NC_000001.9:g.25442767C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243189.12:c.673-56G>T MANE Select	ENSP00000243189.7:n.673-56G>T
ENST00000243189.11:c.673-56G>T	ENSP00000243189.7:n.673-56G>T
ENST00000473314.6:c.*572G>T	ENSP00000457582.1:n.*572G>T
ENST00000475766.2:n.224-56G>T
ENST00000498238.1:n.2345G>T
ENST00000565733.5:c.350-56G>T
ENST00000566395.5:c.290-56G>T
ENST00000568254.5:c.*527G>T	ENSP00000457195.1:n.*527G>T
ENST00000569495.5:n.417G>T
ENST00000570063.5:n.1310-56G>T
NM_020317.3:c.673-56G>T	NP_064713.3:n.673-56G>T
XM_011541797.1:c.673-56G>T	XP_011540099.1:n.673-56G>T
XM_011541798.1:c.*36-56G>T	XP_011540100.1:n.*36-56G>T
XR_241200.1:n.1530G>T
XR_241201.1:n.995-56G>T
XR_946709.1:n.2181G>T
XR_946710.1:n.1919-56G>T
XR_946711.1:n.1646-56G>T
XR_946712.1:n.1759G>T
XR_946713.1:n.1485G>T
NM_001321772.1:c.673-56G>T	NP_001308701.1:n.673-56G>T
NM_020317.4:c.673-56G>T	NP_064713.3:n.673-56G>T
NR_135143.1:n.2410G>T
NR_135144.1:n.1485G>T
NR_135777.1:n.2385G>T
NR_135778.1:n.1759G>T
NR_135780.1:n.1919-56G>T
NR_135781.1:n.1530G>T
NR_135782.1:n.1268-56G>T
NR_135783.1:n.995-56G>T
NR_135784.1:n.2410G>T
NR_135785.1:n.994-56G>T
NR_135786.1:n.2410G>T
NR_135787.1:n.2534G>T
NR_135788.1:n.2476G>T
NR_135789.1:n.3414G>T
XR_946709.2:n.2147G>T
NM_020317.5:c.673-56G>T MANE Select	NP_064713.3:n.673-56G>T
NR_135784.2:n.2345G>T
NR_135786.2:n.2345G>T
NM_001321772.2:c.673-56G>T	NP_001308701.1:n.673-56G>T
NR_135143.2:n.2345G>T
NR_135144.2:n.1420G>T
NR_135777.2:n.2385G>T
NR_135778.2:n.1694G>T
NR_135780.2:n.1854-56G>T
NR_135781.2:n.1465G>T
NR_135782.2:n.1203-56G>T
NR_135783.2:n.930-56G>T
NR_135785.2:n.929-56G>T
NR_135787.2:n.2534G>T
NR_135788.2:n.2476G>T
NR_135789.2:n.3414G>T