Canonical Allele Identifier: CA339062774

Gene: RSRP1

Linked Data

• MyVariant Identifiers: chr1:g.25570115T>A (hg19) ; chr1:g.25243624T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25243624T>A , CM000663.2:g.25243624T>A	GRCh38
NC_000001.10:g.25570115T>A , CM000663.1:g.25570115T>A	GRCh37
NC_000001.9:g.25442702T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243189.12:c.682A>T MANE Select	ENSP00000243189.7:p.Lys228Ter
ENST00000243189.11:c.682A>T	ENSP00000243189.7:p.Lys228Ter
ENST00000473314.6:c.*637A>T	ENSP00000457582.1:n.*637A>T
ENST00000475766.2:n.233A>T
ENST00000498238.1:n.2410A>T
ENST00000564223.5:n.31A>T
ENST00000565733.5:c.359A>T
ENST00000566395.5:c.299A>T
ENST00000568254.5:c.*592A>T	ENSP00000457195.1:n.*592A>T
ENST00000569495.5:n.482A>T
ENST00000570063.5:n.1319A>T
NM_020317.3:c.682A>T	NP_064713.3:p.Lys228Ter
XM_011541797.1:c.682A>T	XP_011540099.1:p.Lys228Ter
XM_011541798.1:c.*45A>T	XP_011540100.1:n.*45A>T
XR_241200.1:n.1595A>T
XR_241201.1:n.1004A>T
XR_946709.1:n.2246A>T
XR_946710.1:n.1928A>T
XR_946711.1:n.1655A>T
XR_946712.1:n.1824A>T
XR_946713.1:n.1550A>T
NM_001321772.1:c.682A>T	NP_001308701.1:p.Lys228Ter
NM_020317.4:c.682A>T	NP_064713.3:p.Lys228Ter
NR_135143.1:n.2475A>T
NR_135144.1:n.1550A>T
NR_135777.1:n.2450A>T
NR_135778.1:n.1824A>T
NR_135780.1:n.1928A>T
NR_135781.1:n.1595A>T
NR_135782.1:n.1277A>T
NR_135783.1:n.1004A>T
NR_135784.1:n.2475A>T
NR_135785.1:n.1003A>T
NR_135786.1:n.2475A>T
NR_135787.1:n.2599A>T
NR_135788.1:n.2541A>T
NR_135789.1:n.3479A>T
XR_946709.2:n.2212A>T
NM_020317.5:c.682A>T MANE Select	NP_064713.3:p.Lys228Ter
NR_135784.2:n.2410A>T
NR_135786.2:n.2410A>T
NM_001321772.2:c.682A>T	NP_001308701.1:p.Lys228Ter
NR_135143.2:n.2410A>T
NR_135144.2:n.1485A>T
NR_135777.2:n.2450A>T
NR_135778.2:n.1759A>T
NR_135780.2:n.1863A>T
NR_135781.2:n.1530A>T
NR_135782.2:n.1212A>T
NR_135783.2:n.939A>T
NR_135785.2:n.938A>T
NR_135787.2:n.2599A>T
NR_135788.2:n.2541A>T
NR_135789.2:n.3479A>T