Canonical Allele Identifier: CA388867691
Gene: RPGRIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21324894C>A , CM000676.2:g.21324894C>A GRCh38
NC_000014.8:g.21793053C>A , CM000676.1:g.21793053C>A GRCh37
NC_000014.7:g.20862893C>A NCBI36
NG_008933.1:g.41918C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.2039C>A MANE Select ENSP00000382895.2:p.Ser680Tyr
ENST00000382933.8:c.689-2729C>A ENSP00000372391.4:n.689-2729C>A
ENST00000400017.6:c.2039C>A ENSP00000382895.2:p.Ser680Tyr
ENST00000553500.5:n.328+169C>A
ENST00000553927.1:n.971C>A
ENST00000554303.1:c.425C>A ENSP00000450426.1:p.Ser142Tyr
ENST00000555322.5:c.466C>A
ENST00000555489.5:c.232C>A ENSP00000451044.1:n.232C>A
ENST00000555587.5:c.464C>A ENSP00000451262.1:p.Ser155Tyr
ENST00000556336.5:c.1682-2729C>A ENSP00000450445.1:n.1682-2729C>A
ENST00000557771.5:c.1925C>A ENSP00000451219.1:p.Ser642Tyr
NM_020366.3:c.2039C>A NP_065099.3:p.Ser680Tyr
XM_005267879.2:c.965C>A XP_005267936.1:p.Ser322Tyr
XM_005267880.2:c.932C>A XP_005267937.1:p.Ser311Tyr
XM_005267881.2:c.413C>A XP_005267938.1:p.Ser138Tyr
XM_011536978.1:c.965C>A XP_011535280.1:p.Ser322Tyr
XM_011536979.1:c.797-48C>A XP_011535281.1:n.797-48C>A
XM_011536980.1:c.796+169C>A XP_011535282.1:n.796+169C>A
XM_011536981.1:c.965C>A XP_011535283.1:p.Ser322Tyr
XM_011536982.1:c.796+169C>A XP_011535284.1:n.796+169C>A
XM_011536983.1:c.2006C>A XP_011535285.1:p.Ser669Tyr
XM_005267881.3:c.413C>A XP_005267938.1:p.Ser138Tyr
XM_017021473.1:c.965C>A XP_016876962.1:p.Ser322Tyr
XM_024449663.1:c.965C>A XP_024305431.1:p.Ser322Tyr
XM_024449664.1:c.965C>A XP_024305432.1:p.Ser322Tyr
XM_024449665.1:c.796+169C>A XP_024305433.1:n.796+169C>A
XM_024449666.1:c.796+169C>A XP_024305434.1:n.796+169C>A
NM_001377523.1:c.689-2729C>A NP_001364452.1:n.689-2729C>A
NM_001377948.1:c.965C>A NP_001364877.1:p.Ser322Tyr
NM_001377949.1:c.796+169C>A NP_001364878.1:n.796+169C>A
NM_001377950.1:c.689-2729C>A NP_001364879.1:n.689-2729C>A
NM_001377951.1:c.191-2729C>A NP_001364880.1:n.191-2729C>A
NM_020366.4:c.2039C>A MANE Select NP_065099.3:p.Ser680Tyr