Canonical Allele Identifier: CA339062761

Gene: RSRP1

Linked Data

• MyVariant Identifiers: chr1:g.25570112C>T (hg19) ; chr1:g.25243621C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25243621C>T , CM000663.2:g.25243621C>T	GRCh38
NC_000001.10:g.25570112C>T , CM000663.1:g.25570112C>T	GRCh37
NC_000001.9:g.25442699C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243189.12:c.685G>A MANE Select	ENSP00000243189.7:p.Val229Ile
ENST00000243189.11:c.685G>A	ENSP00000243189.7:p.Val229Ile
ENST00000473314.6:c.*640G>A	ENSP00000457582.1:n.*640G>A
ENST00000475766.2:n.236G>A
ENST00000498238.1:n.2413G>A
ENST00000564223.5:n.34G>A
ENST00000565733.5:c.362G>A
ENST00000566395.5:c.302G>A
ENST00000568254.5:c.*595G>A	ENSP00000457195.1:n.*595G>A
ENST00000569495.5:n.485G>A
ENST00000570063.5:n.1322G>A
NM_020317.3:c.685G>A	NP_064713.3:p.Val229Ile
XM_011541797.1:c.685G>A	XP_011540099.1:p.Val229Ile
XM_011541798.1:c.*48G>A	XP_011540100.1:n.*48G>A
XR_241200.1:n.1598G>A
XR_241201.1:n.1007G>A
XR_946709.1:n.2249G>A
XR_946710.1:n.1931G>A
XR_946711.1:n.1658G>A
XR_946712.1:n.1827G>A
XR_946713.1:n.1553G>A
NM_001321772.1:c.685G>A	NP_001308701.1:p.Val229Ile
NM_020317.4:c.685G>A	NP_064713.3:p.Val229Ile
NR_135143.1:n.2478G>A
NR_135144.1:n.1553G>A
NR_135777.1:n.2453G>A
NR_135778.1:n.1827G>A
NR_135780.1:n.1931G>A
NR_135781.1:n.1598G>A
NR_135782.1:n.1280G>A
NR_135783.1:n.1007G>A
NR_135784.1:n.2478G>A
NR_135785.1:n.1006G>A
NR_135786.1:n.2478G>A
NR_135787.1:n.2602G>A
NR_135788.1:n.2544G>A
NR_135789.1:n.3482G>A
XR_946709.2:n.2215G>A
NM_020317.5:c.685G>A MANE Select	NP_064713.3:p.Val229Ile
NR_135784.2:n.2413G>A
NR_135786.2:n.2413G>A
NM_001321772.2:c.685G>A	NP_001308701.1:p.Val229Ile
NR_135143.2:n.2413G>A
NR_135144.2:n.1488G>A
NR_135777.2:n.2453G>A
NR_135778.2:n.1762G>A
NR_135780.2:n.1866G>A
NR_135781.2:n.1533G>A
NR_135782.2:n.1215G>A
NR_135783.2:n.942G>A
NR_135785.2:n.941G>A
NR_135787.2:n.2602G>A
NR_135788.2:n.2544G>A
NR_135789.2:n.3482G>A