Canonical Allele Identifier: CA693580

Gene: RSRP1

Linked Data

• dbSNP Id: rs376802336
• ExAC: 1:25570169 G / C
• gnomAD v2: 1-25570169-G-C
• gnomAD v3: 1-25243678-G-C
• gnomAD v4: 1-25243678-G-C
• MyVariant Identifiers: chr1:g.25570169G>C (hg19) ; chr1:g.25243678G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25243678G>C , CM000663.2:g.25243678G>C	GRCh38
NC_000001.10:g.25570169G>C , CM000663.1:g.25570169G>C	GRCh37
NC_000001.9:g.25442756G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243189.12:c.673-45C>G MANE Select	ENSP00000243189.7:n.673-45C>G
ENST00000243189.11:c.673-45C>G	ENSP00000243189.7:n.673-45C>G
ENST00000473314.6:c.*583C>G	ENSP00000457582.1:n.*583C>G
ENST00000475766.2:n.224-45C>G
ENST00000498238.1:n.2356C>G
ENST00000565733.5:c.350-45C>G
ENST00000566395.5:c.290-45C>G
ENST00000568254.5:c.*538C>G	ENSP00000457195.1:n.*538C>G
ENST00000569495.5:n.428C>G
ENST00000570063.5:n.1310-45C>G
NM_020317.3:c.673-45C>G	NP_064713.3:n.673-45C>G
XM_011541797.1:c.673-45C>G	XP_011540099.1:n.673-45C>G
XM_011541798.1:c.*36-45C>G	XP_011540100.1:n.*36-45C>G
XR_241200.1:n.1541C>G
XR_241201.1:n.995-45C>G
XR_946709.1:n.2192C>G
XR_946710.1:n.1919-45C>G
XR_946711.1:n.1646-45C>G
XR_946712.1:n.1770C>G
XR_946713.1:n.1496C>G
NM_001321772.1:c.673-45C>G	NP_001308701.1:n.673-45C>G
NM_020317.4:c.673-45C>G	NP_064713.3:n.673-45C>G
NR_135143.1:n.2421C>G
NR_135144.1:n.1496C>G
NR_135777.1:n.2396C>G
NR_135778.1:n.1770C>G
NR_135780.1:n.1919-45C>G
NR_135781.1:n.1541C>G
NR_135782.1:n.1268-45C>G
NR_135783.1:n.995-45C>G
NR_135784.1:n.2421C>G
NR_135785.1:n.994-45C>G
NR_135786.1:n.2421C>G
NR_135787.1:n.2545C>G
NR_135788.1:n.2487C>G
NR_135789.1:n.3425C>G
XR_946709.2:n.2158C>G
NM_020317.5:c.673-45C>G MANE Select	NP_064713.3:n.673-45C>G
NR_135784.2:n.2356C>G
NR_135786.2:n.2356C>G
NM_001321772.2:c.673-45C>G	NP_001308701.1:n.673-45C>G
NR_135143.2:n.2356C>G
NR_135144.2:n.1431C>G
NR_135777.2:n.2396C>G
NR_135778.2:n.1705C>G
NR_135780.2:n.1854-45C>G
NR_135781.2:n.1476C>G
NR_135782.2:n.1203-45C>G
NR_135783.2:n.930-45C>G
NR_135785.2:n.929-45C>G
NR_135787.2:n.2545C>G
NR_135788.2:n.2487C>G
NR_135789.2:n.3425C>G