Canonical Allele Identifier: CA416726419

Gene: RSRP1

Linked Data

• MyVariant Identifiers: chr1:g.25570110T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25243619T>C , CM000663.2:g.25243619T>C	GRCh38
NC_000001.10:g.25570110T>C , CM000663.1:g.25570110T>C	GRCh37
NC_000001.9:g.25442697T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243189.12:c.687A>G MANE Select	ENSP00000243189.7:p.Val229=
ENST00000243189.11:c.687A>G	ENSP00000243189.7:p.Val229=
ENST00000473314.6:c.*642A>G	ENSP00000457582.1:n.*642A>G
ENST00000475766.2:n.238A>G
ENST00000498238.1:n.2415A>G
ENST00000564223.5:n.36A>G
ENST00000565733.5:c.364A>G
ENST00000566395.5:c.304A>G
ENST00000568254.5:c.*597A>G	ENSP00000457195.1:n.*597A>G
ENST00000569495.5:n.487A>G
ENST00000570063.5:n.1324A>G
NM_020317.3:c.687A>G	NP_064713.3:p.Val229=
XM_011541797.1:c.687A>G	XP_011540099.1:p.Val229=
XM_011541798.1:c.*50A>G	XP_011540100.1:n.*50A>G
XR_241200.1:n.1600A>G
XR_241201.1:n.1009A>G
XR_946709.1:n.2251A>G
XR_946710.1:n.1933A>G
XR_946711.1:n.1660A>G
XR_946712.1:n.1829A>G
XR_946713.1:n.1555A>G
NM_001321772.1:c.687A>G	NP_001308701.1:p.Val229=
NM_020317.4:c.687A>G	NP_064713.3:p.Val229=
NR_135143.1:n.2480A>G
NR_135144.1:n.1555A>G
NR_135777.1:n.2455A>G
NR_135778.1:n.1829A>G
NR_135780.1:n.1933A>G
NR_135781.1:n.1600A>G
NR_135782.1:n.1282A>G
NR_135783.1:n.1009A>G
NR_135784.1:n.2480A>G
NR_135785.1:n.1008A>G
NR_135786.1:n.2480A>G
NR_135787.1:n.2604A>G
NR_135788.1:n.2546A>G
NR_135789.1:n.3484A>G
XR_946709.2:n.2217A>G
NM_020317.5:c.687A>G MANE Select	NP_064713.3:p.Val229=
NR_135784.2:n.2415A>G
NR_135786.2:n.2415A>G
NM_001321772.2:c.687A>G	NP_001308701.1:p.Val229=
NR_135143.2:n.2415A>G
NR_135144.2:n.1490A>G
NR_135777.2:n.2455A>G
NR_135778.2:n.1764A>G
NR_135780.2:n.1868A>G
NR_135781.2:n.1535A>G
NR_135782.2:n.1217A>G
NR_135783.2:n.944A>G
NR_135785.2:n.943A>G
NR_135787.2:n.2604A>G
NR_135788.2:n.2546A>G
NR_135789.2:n.3484A>G