Canonical Allele Identifier: CA388867679
Gene: RPGRIP1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.2036C>A MANE Select ENSP00000382895.2:p.Thr679Asn
ENST00000382933.8:c.689-2732C>A ENSP00000372391.4:n.689-2732C>A
ENST00000400017.6:c.2036C>A ENSP00000382895.2:p.Thr679Asn
ENST00000553500.5:n.328+166C>A
ENST00000553927.1:n.968C>A
ENST00000554303.1:c.422C>A ENSP00000450426.1:p.Thr141Asn
ENST00000555322.5:c.463C>A
ENST00000555489.5:c.229C>A ENSP00000451044.1:n.229C>A
ENST00000555587.5:c.461C>A ENSP00000451262.1:p.Thr154Asn
ENST00000556336.5:c.1682-2732C>A ENSP00000450445.1:n.1682-2732C>A
ENST00000557771.5:c.1922C>A ENSP00000451219.1:p.Thr641Asn
NM_020366.3:c.2036C>A NP_065099.3:p.Thr679Asn
XM_005267879.2:c.962C>A XP_005267936.1:p.Thr321Asn
XM_005267880.2:c.929C>A XP_005267937.1:p.Thr310Asn
XM_005267881.2:c.410C>A XP_005267938.1:p.Thr137Asn
XM_011536978.1:c.962C>A XP_011535280.1:p.Thr321Asn
XM_011536979.1:c.797-51C>A XP_011535281.1:n.797-51C>A
XM_011536980.1:c.796+166C>A XP_011535282.1:n.796+166C>A
XM_011536981.1:c.962C>A XP_011535283.1:p.Thr321Asn
XM_011536982.1:c.796+166C>A XP_011535284.1:n.796+166C>A
XM_011536983.1:c.2003C>A XP_011535285.1:p.Thr668Asn
XM_005267881.3:c.410C>A XP_005267938.1:p.Thr137Asn
XM_017021473.1:c.962C>A XP_016876962.1:p.Thr321Asn
XM_024449663.1:c.962C>A XP_024305431.1:p.Thr321Asn
XM_024449664.1:c.962C>A XP_024305432.1:p.Thr321Asn
XM_024449665.1:c.796+166C>A XP_024305433.1:n.796+166C>A
XM_024449666.1:c.796+166C>A XP_024305434.1:n.796+166C>A
NM_001377523.1:c.689-2732C>A NP_001364452.1:n.689-2732C>A
NM_001377948.1:c.962C>A NP_001364877.1:p.Thr321Asn
NM_001377949.1:c.796+166C>A NP_001364878.1:n.796+166C>A
NM_001377950.1:c.689-2732C>A NP_001364879.1:n.689-2732C>A
NM_001377951.1:c.191-2732C>A NP_001364880.1:n.191-2732C>A
NM_020366.4:c.2036C>A MANE Select NP_065099.3:p.Thr679Asn