Canonical Allele Identifier: CA7089465
Community Standard Title: NM_020366.4(RPGRIP1):c.3239-14C>T
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21334591C>T , CM000676.2:g.21334591C>T GRCh38
NC_000014.8:g.21802750C>T , CM000676.1:g.21802750C>T GRCh37
NC_000014.7:g.20872590C>T NCBI36
NG_008933.1:g.51615C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020366.4:c.3239-14C>T MANE Select NP_065099.3:n.3239-14C>T
ENST00000400017.7:c.3239-14C>T MANE Select ENSP00000382895.2:n.3239-14C>T
NM_001377523.1:c.1217-14C>T NP_001364452.1:n.1217-14C>T
NM_001377948.1:c.2165-14C>T NP_001364877.1:n.2165-14C>T
NM_001377949.1:c.1325-14C>T NP_001364878.1:n.1325-14C>T
NM_001377950.1:c.1214-11C>T NP_001364879.1:n.1214-11C>T
NM_001377951.1:c.719-11C>T NP_001364880.1:n.719-11C>T
NM_020366.3:c.3239-14C>T NP_065099.3:n.3239-14C>T
ENST00000382933.8:c.1217-14C>T ENSP00000372391.4:n.1217-14C>T
ENST00000400017.6:c.3239-14C>T ENSP00000382895.2:n.3239-14C>T
ENST00000553927.1:n.2171-14C>T
ENST00000555322.5:c.1666-14C>T
ENST00000555489.5:c.1432-14C>T ENSP00000451044.1:n.1432-14C>T
ENST00000555587.5:c.1664-14C>T ENSP00000451262.1:n.1664-14C>T
ENST00000556336.5:c.2210-14C>T ENSP00000450445.1:n.2210-14C>T
ENST00000557606.1:c.169-11C>T
ENST00000557771.5:c.3125-14C>T ENSP00000451219.1:n.3125-14C>T
XM_005267879.2:c.2165-11C>T XP_005267936.1:n.2165-11C>T
XM_005267880.2:c.2132-11C>T XP_005267937.1:n.2132-11C>T
XM_005267881.2:c.1613-11C>T XP_005267938.1:n.1613-11C>T
XM_005267881.3:c.1613-11C>T XP_005267938.1:n.1613-11C>T
XM_011536978.1:c.2162-11C>T XP_011535280.1:n.2162-11C>T
XM_011536979.1:c.1949-11C>T XP_011535281.1:n.1949-11C>T
XM_011536980.1:c.1820-11C>T XP_011535282.1:n.1820-11C>T
XM_011536981.1:c.1670-11C>T XP_011535283.1:n.1670-11C>T
XM_011536982.1:c.1325-11C>T XP_011535284.1:n.1325-11C>T
XM_011536983.1:c.3206-14C>T XP_011535285.1:n.3206-14C>T
XM_017021473.1:c.1667-11C>T XP_016876962.1:n.1667-11C>T
XM_024449663.1:c.2162-14C>T XP_024305431.1:n.2162-14C>T
XM_024449664.1:c.1667-14C>T XP_024305432.1:n.1667-14C>T
XM_024449665.1:c.1325-14C>T XP_024305433.1:n.1325-14C>T
XM_024449666.1:c.1322-14C>T XP_024305434.1:n.1322-14C>T