Canonical Allele Identifier: CA339062796

Gene: RSRP1

Linked Data

• MyVariant Identifiers: chr1:g.25570118C>A (hg19) ; chr1:g.25243627C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25243627C>A , CM000663.2:g.25243627C>A	GRCh38
NC_000001.10:g.25570118C>A , CM000663.1:g.25570118C>A	GRCh37
NC_000001.9:g.25442705C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243189.12:c.679G>T MANE Select	ENSP00000243189.7:p.Glu227Ter
ENST00000243189.11:c.679G>T	ENSP00000243189.7:p.Glu227Ter
ENST00000473314.6:c.*634G>T	ENSP00000457582.1:n.*634G>T
ENST00000475766.2:n.230G>T
ENST00000498238.1:n.2407G>T
ENST00000564223.5:n.28G>T
ENST00000565733.5:c.356G>T
ENST00000566395.5:c.296G>T
ENST00000568254.5:c.*589G>T	ENSP00000457195.1:n.*589G>T
ENST00000569495.5:n.479G>T
ENST00000570063.5:n.1316G>T
NM_020317.3:c.679G>T	NP_064713.3:p.Glu227Ter
XM_011541797.1:c.679G>T	XP_011540099.1:p.Glu227Ter
XM_011541798.1:c.*42G>T	XP_011540100.1:n.*42G>T
XR_241200.1:n.1592G>T
XR_241201.1:n.1001G>T
XR_946709.1:n.2243G>T
XR_946710.1:n.1925G>T
XR_946711.1:n.1652G>T
XR_946712.1:n.1821G>T
XR_946713.1:n.1547G>T
NM_001321772.1:c.679G>T	NP_001308701.1:p.Glu227Ter
NM_020317.4:c.679G>T	NP_064713.3:p.Glu227Ter
NR_135143.1:n.2472G>T
NR_135144.1:n.1547G>T
NR_135777.1:n.2447G>T
NR_135778.1:n.1821G>T
NR_135780.1:n.1925G>T
NR_135781.1:n.1592G>T
NR_135782.1:n.1274G>T
NR_135783.1:n.1001G>T
NR_135784.1:n.2472G>T
NR_135785.1:n.1000G>T
NR_135786.1:n.2472G>T
NR_135787.1:n.2596G>T
NR_135788.1:n.2538G>T
NR_135789.1:n.3476G>T
XR_946709.2:n.2209G>T
NM_020317.5:c.679G>T MANE Select	NP_064713.3:p.Glu227Ter
NR_135784.2:n.2407G>T
NR_135786.2:n.2407G>T
NM_001321772.2:c.679G>T	NP_001308701.1:p.Glu227Ter
NR_135143.2:n.2407G>T
NR_135144.2:n.1482G>T
NR_135777.2:n.2447G>T
NR_135778.2:n.1756G>T
NR_135780.2:n.1860G>T
NR_135781.2:n.1527G>T
NR_135782.2:n.1209G>T
NR_135783.2:n.936G>T
NR_135785.2:n.935G>T
NR_135787.2:n.2596G>T
NR_135788.2:n.2538G>T
NR_135789.2:n.3476G>T