Canonical Allele Identifier: CA484998065
Community Standard Title: NM_020366.4(RPGRIP1):c.3240C>T (p.Asp1080=)
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21334606C>T , CM000676.2:g.21334606C>T GRCh38
NC_000014.8:g.21802765C>T , CM000676.1:g.21802765C>T GRCh37
NC_000014.7:g.20872605C>T NCBI36
NG_008933.1:g.51630C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020366.4:c.3240C>T MANE Select NP_065099.3:p.Asp1080=
ENST00000400017.7:c.3240C>T MANE Select ENSP00000382895.2:p.Asp1080=
NM_001377523.1:c.1218C>T NP_001364452.1:p.Asp406=
NM_001377948.1:c.2166C>T NP_001364877.1:p.Asp722=
NM_001377949.1:c.1326C>T NP_001364878.1:p.Asp442=
NM_001377950.1:c.1218C>T NP_001364879.1:p.Asp406=
NM_001377951.1:c.723C>T NP_001364880.1:p.Asp241=
NM_020366.3:c.3240C>T NP_065099.3:p.Asp1080=
ENST00000382933.8:c.1218C>T ENSP00000372391.4:p.Asp406=
ENST00000400017.6:c.3240C>T ENSP00000382895.2:p.Asp1080=
ENST00000553927.1:n.2172C>T
ENST00000555322.5:c.1667C>T
ENST00000555489.5:c.1433C>T ENSP00000451044.1:n.1433C>T
ENST00000555587.5:c.1665C>T ENSP00000451262.1:p.Asp555=
ENST00000556336.5:c.2211C>T ENSP00000450445.1:p.Asp737=
ENST00000557606.1:c.173C>T
ENST00000557771.5:c.3126C>T ENSP00000451219.1:p.Asp1042=
XM_005267879.2:c.2169C>T XP_005267936.1:p.Asp723=
XM_005267880.2:c.2136C>T XP_005267937.1:p.Asp712=
XM_005267881.2:c.1617C>T XP_005267938.1:p.Asp539=
XM_005267881.3:c.1617C>T XP_005267938.1:p.Asp539=
XM_011536978.1:c.2166C>T XP_011535280.1:p.Asp722=
XM_011536979.1:c.1953C>T XP_011535281.1:p.Asp651=
XM_011536980.1:c.1824C>T XP_011535282.1:p.Asp608=
XM_011536981.1:c.1674C>T XP_011535283.1:p.Asp558=
XM_011536982.1:c.1329C>T XP_011535284.1:p.Asp443=
XM_011536983.1:c.3207C>T XP_011535285.1:p.Asp1069=
XM_017021473.1:c.1671C>T XP_016876962.1:p.Asp557=
XM_024449663.1:c.2163C>T XP_024305431.1:p.Asp721=
XM_024449664.1:c.1668C>T XP_024305432.1:p.Asp556=
XM_024449665.1:c.1326C>T XP_024305433.1:p.Asp442=
XM_024449666.1:c.1323C>T XP_024305434.1:p.Asp441=