Canonical Allele Identifier: CA16042847

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 372988
• ClinVar RCV Id: RCV000413987 ; RCV000515742
• dbSNP Id: rs1057518122
• gnomAD v4: 14-21334710-G-A
• MyVariant Identifiers: chr14:g.21802869G>A (hg19) ; chr14:g.21334710G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21334710G>A , CM000676.2:g.21334710G>A	GRCh38
NC_000014.8:g.21802869G>A , CM000676.1:g.21802869G>A	GRCh37
NC_000014.7:g.20872709G>A	NCBI36
NG_008933.1:g.51734G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.3339+5G>A MANE Select	ENSP00000382895.2:n.3339+5G>A
ENST00000382933.8:c.1317+5G>A	ENSP00000372391.4:n.1317+5G>A
ENST00000400017.6:c.3339+5G>A	ENSP00000382895.2:n.3339+5G>A
ENST00000553927.1:n.2271+5G>A
ENST00000555322.5:c.1766+5G>A
ENST00000555489.5:c.1532+5G>A	ENSP00000451044.1:n.1532+5G>A
ENST00000555587.5:c.1764+5G>A	ENSP00000451262.1:n.1764+5G>A
ENST00000556336.5:c.2310+5G>A	ENSP00000450445.1:n.2310+5G>A
ENST00000557606.1:c.272+5G>A
ENST00000557771.5:c.3225+5G>A	ENSP00000451219.1:n.3225+5G>A
NM_020366.3:c.3339+5G>A	NP_065099.3:n.3339+5G>A
XM_005267879.2:c.2268+5G>A	XP_005267936.1:n.2268+5G>A
XM_005267880.2:c.2235+5G>A	XP_005267937.1:n.2235+5G>A
XM_005267881.2:c.1716+5G>A	XP_005267938.1:n.1716+5G>A
XM_011536978.1:c.2265+5G>A	XP_011535280.1:n.2265+5G>A
XM_011536979.1:c.2052+5G>A	XP_011535281.1:n.2052+5G>A
XM_011536980.1:c.1923+5G>A	XP_011535282.1:n.1923+5G>A
XM_011536981.1:c.1773+5G>A	XP_011535283.1:n.1773+5G>A
XM_011536982.1:c.1428+5G>A	XP_011535284.1:n.1428+5G>A
XM_011536983.1:c.3306+5G>A	XP_011535285.1:n.3306+5G>A
XM_005267881.3:c.1716+5G>A	XP_005267938.1:n.1716+5G>A
XM_017021473.1:c.1770+5G>A	XP_016876962.1:n.1770+5G>A
XM_024449663.1:c.2262+5G>A	XP_024305431.1:n.2262+5G>A
XM_024449664.1:c.1767+5G>A	XP_024305432.1:n.1767+5G>A
XM_024449665.1:c.1425+5G>A	XP_024305433.1:n.1425+5G>A
XM_024449666.1:c.1422+5G>A	XP_024305434.1:n.1422+5G>A
NM_001377523.1:c.1317+5G>A	NP_001364452.1:n.1317+5G>A
NM_001377948.1:c.2265+5G>A	NP_001364877.1:n.2265+5G>A
NM_001377949.1:c.1425+5G>A	NP_001364878.1:n.1425+5G>A
NM_001377950.1:c.1317+5G>A	NP_001364879.1:n.1317+5G>A
NM_001377951.1:c.822+5G>A	NP_001364880.1:n.822+5G>A
NM_020366.4:c.3339+5G>A MANE Select	NP_065099.3:n.3339+5G>A