Canonical Allele Identifier: CA339062805

Gene: RSRP1

Linked Data

• gnomAD v4: 1-25243629-G-T
• MyVariant Identifiers: chr1:g.25570120G>T (hg19) ; chr1:g.25243629G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25243629G>T , CM000663.2:g.25243629G>T	GRCh38
NC_000001.10:g.25570120G>T , CM000663.1:g.25570120G>T	GRCh37
NC_000001.9:g.25442707G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243189.12:c.677C>A MANE Select	ENSP00000243189.7:p.Ser226Ter
ENST00000243189.11:c.677C>A	ENSP00000243189.7:p.Ser226Ter
ENST00000473314.6:c.*632C>A	ENSP00000457582.1:n.*632C>A
ENST00000475766.2:n.228C>A
ENST00000498238.1:n.2405C>A
ENST00000564223.5:n.26C>A
ENST00000565733.5:c.354C>A
ENST00000566395.5:c.294C>A
ENST00000568254.5:c.*587C>A	ENSP00000457195.1:n.*587C>A
ENST00000569495.5:n.477C>A
ENST00000570063.5:n.1314C>A
NM_020317.3:c.677C>A	NP_064713.3:p.Ser226Ter
XM_011541797.1:c.677C>A	XP_011540099.1:p.Ser226Ter
XM_011541798.1:c.*40C>A	XP_011540100.1:n.*40C>A
XR_241200.1:n.1590C>A
XR_241201.1:n.999C>A
XR_946709.1:n.2241C>A
XR_946710.1:n.1923C>A
XR_946711.1:n.1650C>A
XR_946712.1:n.1819C>A
XR_946713.1:n.1545C>A
NM_001321772.1:c.677C>A	NP_001308701.1:p.Ser226Ter
NM_020317.4:c.677C>A	NP_064713.3:p.Ser226Ter
NR_135143.1:n.2470C>A
NR_135144.1:n.1545C>A
NR_135777.1:n.2445C>A
NR_135778.1:n.1819C>A
NR_135780.1:n.1923C>A
NR_135781.1:n.1590C>A
NR_135782.1:n.1272C>A
NR_135783.1:n.999C>A
NR_135784.1:n.2470C>A
NR_135785.1:n.998C>A
NR_135786.1:n.2470C>A
NR_135787.1:n.2594C>A
NR_135788.1:n.2536C>A
NR_135789.1:n.3474C>A
XR_946709.2:n.2207C>A
NM_020317.5:c.677C>A MANE Select	NP_064713.3:p.Ser226Ter
NR_135784.2:n.2405C>A
NR_135786.2:n.2405C>A
NM_001321772.2:c.677C>A	NP_001308701.1:p.Ser226Ter
NR_135143.2:n.2405C>A
NR_135144.2:n.1480C>A
NR_135777.2:n.2445C>A
NR_135778.2:n.1754C>A
NR_135780.2:n.1858C>A
NR_135781.2:n.1525C>A
NR_135782.2:n.1207C>A
NR_135783.2:n.934C>A
NR_135785.2:n.933C>A
NR_135787.2:n.2594C>A
NR_135788.2:n.2536C>A
NR_135789.2:n.3474C>A