Canonical Allele Identifier: CA339062751

Gene: RSRP1

Linked Data

• MyVariant Identifiers: chr1:g.25570111A>C (hg19) ; chr1:g.25243620A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25243620A>C , CM000663.2:g.25243620A>C	GRCh38
NC_000001.10:g.25570111A>C , CM000663.1:g.25570111A>C	GRCh37
NC_000001.9:g.25442698A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243189.12:c.686T>G MANE Select	ENSP00000243189.7:p.Val229Gly
ENST00000243189.11:c.686T>G	ENSP00000243189.7:p.Val229Gly
ENST00000473314.6:c.*641T>G	ENSP00000457582.1:n.*641T>G
ENST00000475766.2:n.237T>G
ENST00000498238.1:n.2414T>G
ENST00000564223.5:n.35T>G
ENST00000565733.5:c.363T>G
ENST00000566395.5:c.303T>G
ENST00000568254.5:c.*596T>G	ENSP00000457195.1:n.*596T>G
ENST00000569495.5:n.486T>G
ENST00000570063.5:n.1323T>G
NM_020317.3:c.686T>G	NP_064713.3:p.Val229Gly
XM_011541797.1:c.686T>G	XP_011540099.1:p.Val229Gly
XM_011541798.1:c.*49T>G	XP_011540100.1:n.*49T>G
XR_241200.1:n.1599T>G
XR_241201.1:n.1008T>G
XR_946709.1:n.2250T>G
XR_946710.1:n.1932T>G
XR_946711.1:n.1659T>G
XR_946712.1:n.1828T>G
XR_946713.1:n.1554T>G
NM_001321772.1:c.686T>G	NP_001308701.1:p.Val229Gly
NM_020317.4:c.686T>G	NP_064713.3:p.Val229Gly
NR_135143.1:n.2479T>G
NR_135144.1:n.1554T>G
NR_135777.1:n.2454T>G
NR_135778.1:n.1828T>G
NR_135780.1:n.1932T>G
NR_135781.1:n.1599T>G
NR_135782.1:n.1281T>G
NR_135783.1:n.1008T>G
NR_135784.1:n.2479T>G
NR_135785.1:n.1007T>G
NR_135786.1:n.2479T>G
NR_135787.1:n.2603T>G
NR_135788.1:n.2545T>G
NR_135789.1:n.3483T>G
XR_946709.2:n.2216T>G
NM_020317.5:c.686T>G MANE Select	NP_064713.3:p.Val229Gly
NR_135784.2:n.2414T>G
NR_135786.2:n.2414T>G
NM_001321772.2:c.686T>G	NP_001308701.1:p.Val229Gly
NR_135143.2:n.2414T>G
NR_135144.2:n.1489T>G
NR_135777.2:n.2454T>G
NR_135778.2:n.1763T>G
NR_135780.2:n.1867T>G
NR_135781.2:n.1534T>G
NR_135782.2:n.1216T>G
NR_135783.2:n.943T>G
NR_135785.2:n.942T>G
NR_135787.2:n.2603T>G
NR_135788.2:n.2545T>G
NR_135789.2:n.3483T>G