Canonical Allele Identifier: CA10643901
Gene: RPGRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 312797
dbSNP Id: rs886050400

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21328583A>T , CM000676.2:g.21328583A>T GRCh38
NC_000014.8:g.21796742A>T , CM000676.1:g.21796742A>T GRCh37
NC_000014.7:g.20866582A>T NCBI36
NG_008933.1:g.45607A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.3055A>T MANE Select ENSP00000382895.2:p.Met1019Leu
ENST00000382933.8:c.1033A>T ENSP00000372391.4:p.Met345Leu
ENST00000400017.6:c.3055A>T ENSP00000382895.2:p.Met1019Leu
ENST00000553927.1:n.1987A>T
ENST00000555322.5:c.1482A>T
ENST00000555489.5:c.1248A>T ENSP00000451044.1:n.1248A>T
ENST00000555587.5:c.1480A>T ENSP00000451262.1:p.Met494Leu
ENST00000556336.5:c.2026A>T ENSP00000450445.1:p.Met676Leu
ENST00000557771.5:c.2941A>T ENSP00000451219.1:p.Met981Leu
NM_020366.3:c.3055A>T NP_065099.3:p.Met1019Leu
XM_005267879.2:c.1981A>T XP_005267936.1:p.Met661Leu
XM_005267880.2:c.1948A>T XP_005267937.1:p.Met650Leu
XM_005267881.2:c.1429A>T XP_005267938.1:p.Met477Leu
XM_011536978.1:c.1981A>T XP_011535280.1:p.Met661Leu
XM_011536979.1:c.1765A>T XP_011535281.1:p.Met589Leu
XM_011536980.1:c.1636A>T XP_011535282.1:p.Met546Leu
XM_011536981.1:c.1486A>T XP_011535283.1:p.Met496Leu
XM_011536982.1:c.1141A>T XP_011535284.1:p.Met381Leu
XM_011536983.1:c.3022A>T XP_011535285.1:p.Met1008Leu
XM_005267881.3:c.1429A>T XP_005267938.1:p.Met477Leu
XM_017021473.1:c.1486A>T XP_016876962.1:p.Met496Leu
XM_024449663.1:c.1981A>T XP_024305431.1:p.Met661Leu
XM_024449664.1:c.1486A>T XP_024305432.1:p.Met496Leu
XM_024449665.1:c.1141A>T XP_024305433.1:p.Met381Leu
XM_024449666.1:c.1141A>T XP_024305434.1:p.Met381Leu
NM_001377523.1:c.1033A>T NP_001364452.1:p.Met345Leu
NM_001377948.1:c.1981A>T NP_001364877.1:p.Met661Leu
NM_001377949.1:c.1141A>T NP_001364878.1:p.Met381Leu
NM_001377950.1:c.1033A>T NP_001364879.1:p.Met345Leu
NM_001377951.1:c.535A>T NP_001364880.1:p.Met179Leu
NM_020366.4:c.3055A>T MANE Select NP_065099.3:p.Met1019Leu