Canonical Allele Identifier: CA7089119

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 282963
• ClinVar RCV Id: RCV000276189 ; RCV001069833 ; RCV001800644 ; RCV001800645 ; RCV003488496
• dbSNP Id: rs200325360
• ExAC: 14:21792918 C / G
• gnomAD v2: 14-21792918-C-G
• gnomAD v3: 14-21324759-C-G
• gnomAD v4: 14-21324759-C-G
• MyVariant Identifiers: chr14:g.21792918C>G (hg19) ; chr14:g.21324759C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324759C>G , CM000676.2:g.21324759C>G	GRCh38
NC_000014.8:g.21792918C>G , CM000676.1:g.21792918C>G	GRCh37
NC_000014.7:g.20862758C>G	NCBI36
NG_008933.1:g.41783C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1904C>G MANE Select	ENSP00000382895.2:p.Ala635Gly
ENST00000382933.8:c.688+2755C>G	ENSP00000372391.4:n.688+2755C>G
ENST00000400017.6:c.1904C>G	ENSP00000382895.2:p.Ala635Gly
ENST00000553500.5:n.328+34C>G
ENST00000553927.1:n.836C>G
ENST00000554303.1:c.290C>G	ENSP00000450426.1:p.Ala97Gly
ENST00000555322.5:c.331C>G
ENST00000555489.5:c.212+34C>G	ENSP00000451044.1:n.212+34C>G
ENST00000555587.5:c.329C>G	ENSP00000451262.1:p.Ala110Gly
ENST00000556336.5:c.1681+2755C>G	ENSP00000450445.1:n.1681+2755C>G
ENST00000557771.5:c.1790C>G	ENSP00000451219.1:p.Ala597Gly
NM_020366.3:c.1904C>G	NP_065099.3:p.Ala635Gly
XM_005267879.2:c.830C>G	XP_005267936.1:p.Ala277Gly
XM_005267880.2:c.797C>G	XP_005267937.1:p.Ala266Gly
XM_005267881.2:c.278C>G	XP_005267938.1:p.Ala93Gly
XM_011536978.1:c.830C>G	XP_011535280.1:p.Ala277Gly
XM_011536979.1:c.796+34C>G	XP_011535281.1:n.796+34C>G
XM_011536980.1:c.796+34C>G	XP_011535282.1:n.796+34C>G
XM_011536981.1:c.830C>G	XP_011535283.1:p.Ala277Gly
XM_011536982.1:c.796+34C>G	XP_011535284.1:n.796+34C>G
XM_011536983.1:c.1871C>G	XP_011535285.1:p.Ala624Gly
XM_005267881.3:c.278C>G	XP_005267938.1:p.Ala93Gly
XM_017021473.1:c.830C>G	XP_016876962.1:p.Ala277Gly
XM_024449663.1:c.830C>G	XP_024305431.1:p.Ala277Gly
XM_024449664.1:c.830C>G	XP_024305432.1:p.Ala277Gly
XM_024449665.1:c.796+34C>G	XP_024305433.1:n.796+34C>G
XM_024449666.1:c.796+34C>G	XP_024305434.1:n.796+34C>G
NM_001377523.1:c.688+2755C>G	NP_001364452.1:n.688+2755C>G
NM_001377948.1:c.830C>G	NP_001364877.1:p.Ala277Gly
NM_001377949.1:c.796+34C>G	NP_001364878.1:n.796+34C>G
NM_001377950.1:c.688+2755C>G	NP_001364879.1:n.688+2755C>G
NM_001377951.1:c.190+2755C>G	NP_001364880.1:n.190+2755C>G
NM_020366.4:c.1904C>G MANE Select	NP_065099.3:p.Ala635Gly