Canonical Allele Identifier: CA339062765

Gene: RSRP1

Linked Data

• MyVariant Identifiers: chr1:g.25570113C>G (hg19) ; chr1:g.25243622C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25243622C>G , CM000663.2:g.25243622C>G	GRCh38
NC_000001.10:g.25570113C>G , CM000663.1:g.25570113C>G	GRCh37
NC_000001.9:g.25442700C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243189.12:c.684G>C MANE Select	ENSP00000243189.7:p.Lys228Asn
ENST00000243189.11:c.684G>C	ENSP00000243189.7:p.Lys228Asn
ENST00000473314.6:c.*639G>C	ENSP00000457582.1:n.*639G>C
ENST00000475766.2:n.235G>C
ENST00000498238.1:n.2412G>C
ENST00000564223.5:n.33G>C
ENST00000565733.5:c.361G>C
ENST00000566395.5:c.301G>C
ENST00000568254.5:c.*594G>C	ENSP00000457195.1:n.*594G>C
ENST00000569495.5:n.484G>C
ENST00000570063.5:n.1321G>C
NM_020317.3:c.684G>C	NP_064713.3:p.Lys228Asn
XM_011541797.1:c.684G>C	XP_011540099.1:p.Lys228Asn
XM_011541798.1:c.*47G>C	XP_011540100.1:n.*47G>C
XR_241200.1:n.1597G>C
XR_241201.1:n.1006G>C
XR_946709.1:n.2248G>C
XR_946710.1:n.1930G>C
XR_946711.1:n.1657G>C
XR_946712.1:n.1826G>C
XR_946713.1:n.1552G>C
NM_001321772.1:c.684G>C	NP_001308701.1:p.Lys228Asn
NM_020317.4:c.684G>C	NP_064713.3:p.Lys228Asn
NR_135143.1:n.2477G>C
NR_135144.1:n.1552G>C
NR_135777.1:n.2452G>C
NR_135778.1:n.1826G>C
NR_135780.1:n.1930G>C
NR_135781.1:n.1597G>C
NR_135782.1:n.1279G>C
NR_135783.1:n.1006G>C
NR_135784.1:n.2477G>C
NR_135785.1:n.1005G>C
NR_135786.1:n.2477G>C
NR_135787.1:n.2601G>C
NR_135788.1:n.2543G>C
NR_135789.1:n.3481G>C
XR_946709.2:n.2214G>C
NM_020317.5:c.684G>C MANE Select	NP_064713.3:p.Lys228Asn
NR_135784.2:n.2412G>C
NR_135786.2:n.2412G>C
NM_001321772.2:c.684G>C	NP_001308701.1:p.Lys228Asn
NR_135143.2:n.2412G>C
NR_135144.2:n.1487G>C
NR_135777.2:n.2452G>C
NR_135778.2:n.1761G>C
NR_135780.2:n.1865G>C
NR_135781.2:n.1532G>C
NR_135782.2:n.1214G>C
NR_135783.2:n.941G>C
NR_135785.2:n.940G>C
NR_135787.2:n.2601G>C
NR_135788.2:n.2543G>C
NR_135789.2:n.3481G>C