Canonical Allele Identifier: CA16621652
Gene: RPGRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 425035
dbSNP Id: rs1064797182

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21325829A>G , CM000676.2:g.21325829A>G GRCh38
NC_000014.8:g.21793988A>G , CM000676.1:g.21793988A>G GRCh37
NC_000014.7:g.20863828A>G NCBI36
NG_008933.1:g.42853A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000400017.7:c.2368-2A>G MANE Select ENSP00000382895.2:n.2368-2A>G
ENST00000382933.8:c.689-1794A>G ENSP00000372391.4:n.689-1794A>G
ENST00000400017.6:c.2368-2A>G ENSP00000382895.2:n.2368-2A>G
ENST00000553500.5:n.547A>G
ENST00000553927.1:n.1300-2A>G
ENST00000555322.5:c.795-2A>G
ENST00000555489.5:c.561-2A>G ENSP00000451044.1:n.561-2A>G
ENST00000555587.5:c.793-2A>G ENSP00000451262.1:n.793-2A>G
ENST00000556336.5:c.1682-1794A>G ENSP00000450445.1:n.1682-1794A>G
ENST00000557771.5:c.2254-2A>G ENSP00000451219.1:n.2254-2A>G
NM_020366.3:c.2368-2A>G NP_065099.3:n.2368-2A>G
XM_005267879.2:c.1294-2A>G XP_005267936.1:n.1294-2A>G
XM_005267880.2:c.1261-2A>G XP_005267937.1:n.1261-2A>G
XM_005267881.2:c.742-2A>G XP_005267938.1:n.742-2A>G
XM_011536978.1:c.1294-2A>G XP_011535280.1:n.1294-2A>G
XM_011536979.1:c.1078-2A>G XP_011535281.1:n.1078-2A>G
XM_011536980.1:c.949-2A>G XP_011535282.1:n.949-2A>G
XM_011536981.1:c.1141+759A>G XP_011535283.1:n.1141+759A>G
XM_011536982.1:c.796+1104A>G XP_011535284.1:n.796+1104A>G
XM_011536983.1:c.2335-2A>G XP_011535285.1:n.2335-2A>G
XM_005267881.3:c.742-2A>G XP_005267938.1:n.742-2A>G
XM_017021473.1:c.1141+759A>G XP_016876962.1:n.1141+759A>G
XM_024449663.1:c.1294-2A>G XP_024305431.1:n.1294-2A>G
XM_024449664.1:c.1141+759A>G XP_024305432.1:n.1141+759A>G
XM_024449665.1:c.796+1104A>G XP_024305433.1:n.796+1104A>G
XM_024449666.1:c.796+1104A>G XP_024305434.1:n.796+1104A>G
NM_001377523.1:c.689-1794A>G NP_001364452.1:n.689-1794A>G
NM_001377948.1:c.1294-2A>G NP_001364877.1:n.1294-2A>G
NM_001377949.1:c.796+1104A>G NP_001364878.1:n.796+1104A>G
NM_001377950.1:c.689-1794A>G NP_001364879.1:n.689-1794A>G
NM_001377951.1:c.191-1794A>G NP_001364880.1:n.191-1794A>G
NM_020366.4:c.2368-2A>G MANE Select NP_065099.3:n.2368-2A>G