Canonical Allele Identifier: CA13987045
Community Standard Title: NM_020366.4(RPGRIP1):c.3533-199C>G
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21344914C>G , CM000676.2:g.21344914C>G GRCh38
NC_000014.8:g.21813073C>G , CM000676.1:g.21813073C>G GRCh37
NC_000014.7:g.20882913C>G NCBI36
NG_008933.1:g.61938C>G

Transcript Alleles

HGVS Amino-acid Change
NM_020366.4:c.3533-199C>G MANE Select NP_065099.3:n.3533-199C>G
ENST00000400017.7:c.3533-199C>G MANE Select ENSP00000382895.2:n.3533-199C>G
NM_001377523.1:c.1511-199C>G NP_001364452.1:n.1511-199C>G
NM_001377948.1:c.2459-199C>G NP_001364877.1:n.2459-199C>G
NM_001377949.1:c.1619-199C>G NP_001364878.1:n.1619-199C>G
NM_001377950.1:c.1511-199C>G NP_001364879.1:n.1511-199C>G
NM_001377951.1:c.1016-199C>G NP_001364880.1:n.1016-199C>G
NM_020366.3:c.3533-199C>G NP_065099.3:n.3533-199C>G
ENST00000382933.8:c.1511-199C>G ENSP00000372391.4:n.1511-199C>G
ENST00000400017.6:c.3533-199C>G ENSP00000382895.2:n.3533-199C>G
ENST00000553927.1:n.2465-199C>G
ENST00000555322.5:c.1960-199C>G
ENST00000555489.5:c.1726-199C>G ENSP00000451044.1:n.1726-199C>G
ENST00000555587.5:c.1958-199C>G ENSP00000451262.1:n.1958-199C>G
ENST00000556336.5:c.2504-199C>G ENSP00000450445.1:n.2504-199C>G
ENST00000557771.5:c.3419-199C>G ENSP00000451219.1:n.3419-199C>G
XM_005267879.2:c.2462-199C>G XP_005267936.1:n.2462-199C>G
XM_005267880.2:c.2429-199C>G XP_005267937.1:n.2429-199C>G
XM_005267881.2:c.1910-199C>G XP_005267938.1:n.1910-199C>G
XM_005267881.3:c.1910-199C>G XP_005267938.1:n.1910-199C>G
XM_011536978.1:c.2459-199C>G XP_011535280.1:n.2459-199C>G
XM_011536979.1:c.2246-199C>G XP_011535281.1:n.2246-199C>G
XM_011536980.1:c.2117-199C>G XP_011535282.1:n.2117-199C>G
XM_011536981.1:c.1967-199C>G XP_011535283.1:n.1967-199C>G
XM_011536982.1:c.1622-199C>G XP_011535284.1:n.1622-199C>G
XM_011536983.1:c.3500-199C>G XP_011535285.1:n.3500-199C>G
XM_017021473.1:c.1964-199C>G XP_016876962.1:n.1964-199C>G
XM_024449663.1:c.2456-199C>G XP_024305431.1:n.2456-199C>G
XM_024449664.1:c.1961-199C>G XP_024305432.1:n.1961-199C>G
XM_024449665.1:c.1619-199C>G XP_024305433.1:n.1619-199C>G
XM_024449666.1:c.1616-199C>G XP_024305434.1:n.1616-199C>G