Canonical Allele Identifier: CA388867682
Gene: RPGRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1428868
ClinVar RCV Id: RCV001967107
dbSNP Id: rs2139228509

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21324891C>T , CM000676.2:g.21324891C>T GRCh38
NC_000014.8:g.21793050C>T , CM000676.1:g.21793050C>T GRCh37
NC_000014.7:g.20862890C>T NCBI36
NG_008933.1:g.41915C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.2036C>T MANE Select ENSP00000382895.2:p.Thr679Ile
ENST00000382933.8:c.689-2732C>T ENSP00000372391.4:n.689-2732C>T
ENST00000400017.6:c.2036C>T ENSP00000382895.2:p.Thr679Ile
ENST00000553500.5:n.328+166C>T
ENST00000553927.1:n.968C>T
ENST00000554303.1:c.422C>T ENSP00000450426.1:p.Thr141Ile
ENST00000555322.5:c.463C>T
ENST00000555489.5:c.229C>T ENSP00000451044.1:n.229C>T
ENST00000555587.5:c.461C>T ENSP00000451262.1:p.Thr154Ile
ENST00000556336.5:c.1682-2732C>T ENSP00000450445.1:n.1682-2732C>T
ENST00000557771.5:c.1922C>T ENSP00000451219.1:p.Thr641Ile
NM_020366.3:c.2036C>T NP_065099.3:p.Thr679Ile
XM_005267879.2:c.962C>T XP_005267936.1:p.Thr321Ile
XM_005267880.2:c.929C>T XP_005267937.1:p.Thr310Ile
XM_005267881.2:c.410C>T XP_005267938.1:p.Thr137Ile
XM_011536978.1:c.962C>T XP_011535280.1:p.Thr321Ile
XM_011536979.1:c.797-51C>T XP_011535281.1:n.797-51C>T
XM_011536980.1:c.796+166C>T XP_011535282.1:n.796+166C>T
XM_011536981.1:c.962C>T XP_011535283.1:p.Thr321Ile
XM_011536982.1:c.796+166C>T XP_011535284.1:n.796+166C>T
XM_011536983.1:c.2003C>T XP_011535285.1:p.Thr668Ile
XM_005267881.3:c.410C>T XP_005267938.1:p.Thr137Ile
XM_017021473.1:c.962C>T XP_016876962.1:p.Thr321Ile
XM_024449663.1:c.962C>T XP_024305431.1:p.Thr321Ile
XM_024449664.1:c.962C>T XP_024305432.1:p.Thr321Ile
XM_024449665.1:c.796+166C>T XP_024305433.1:n.796+166C>T
XM_024449666.1:c.796+166C>T XP_024305434.1:n.796+166C>T
NM_001377523.1:c.689-2732C>T NP_001364452.1:n.689-2732C>T
NM_001377948.1:c.962C>T NP_001364877.1:p.Thr321Ile
NM_001377949.1:c.796+166C>T NP_001364878.1:n.796+166C>T
NM_001377950.1:c.689-2732C>T NP_001364879.1:n.689-2732C>T
NM_001377951.1:c.191-2732C>T NP_001364880.1:n.191-2732C>T
NM_020366.4:c.2036C>T MANE Select NP_065099.3:p.Thr679Ile