Canonical Allele Identifier: CA388867627
Gene: RPGRIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21324879T>G , CM000676.2:g.21324879T>G GRCh38
NC_000014.8:g.21793038T>G , CM000676.1:g.21793038T>G GRCh37
NC_000014.7:g.20862878T>G NCBI36
NG_008933.1:g.41903T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.2024T>G MANE Select ENSP00000382895.2:p.Leu675Arg
ENST00000382933.8:c.689-2744T>G ENSP00000372391.4:n.689-2744T>G
ENST00000400017.6:c.2024T>G ENSP00000382895.2:p.Leu675Arg
ENST00000553500.5:n.328+154T>G
ENST00000553927.1:n.956T>G
ENST00000554303.1:c.410T>G ENSP00000450426.1:p.Leu137Arg
ENST00000555322.5:c.451T>G
ENST00000555489.5:c.217T>G ENSP00000451044.1:n.217T>G
ENST00000555587.5:c.449T>G ENSP00000451262.1:p.Leu150Arg
ENST00000556336.5:c.1682-2744T>G ENSP00000450445.1:n.1682-2744T>G
ENST00000557771.5:c.1910T>G ENSP00000451219.1:p.Leu637Arg
NM_020366.3:c.2024T>G NP_065099.3:p.Leu675Arg
XM_005267879.2:c.950T>G XP_005267936.1:p.Leu317Arg
XM_005267880.2:c.917T>G XP_005267937.1:p.Leu306Arg
XM_005267881.2:c.398T>G XP_005267938.1:p.Leu133Arg
XM_011536978.1:c.950T>G XP_011535280.1:p.Leu317Arg
XM_011536979.1:c.797-63T>G XP_011535281.1:n.797-63T>G
XM_011536980.1:c.796+154T>G XP_011535282.1:n.796+154T>G
XM_011536981.1:c.950T>G XP_011535283.1:p.Leu317Arg
XM_011536982.1:c.796+154T>G XP_011535284.1:n.796+154T>G
XM_011536983.1:c.1991T>G XP_011535285.1:p.Leu664Arg
XM_005267881.3:c.398T>G XP_005267938.1:p.Leu133Arg
XM_017021473.1:c.950T>G XP_016876962.1:p.Leu317Arg
XM_024449663.1:c.950T>G XP_024305431.1:p.Leu317Arg
XM_024449664.1:c.950T>G XP_024305432.1:p.Leu317Arg
XM_024449665.1:c.796+154T>G XP_024305433.1:n.796+154T>G
XM_024449666.1:c.796+154T>G XP_024305434.1:n.796+154T>G
NM_001377523.1:c.689-2744T>G NP_001364452.1:n.689-2744T>G
NM_001377948.1:c.950T>G NP_001364877.1:p.Leu317Arg
NM_001377949.1:c.796+154T>G NP_001364878.1:n.796+154T>G
NM_001377950.1:c.689-2744T>G NP_001364879.1:n.689-2744T>G
NM_001377951.1:c.191-2744T>G NP_001364880.1:n.191-2744T>G
NM_020366.4:c.2024T>G MANE Select NP_065099.3:p.Leu675Arg