Canonical Allele Identifier: CA388857945
Community Standard Title: NM_020366.4(RPGRIP1):c.3620T>G (p.Leu1207Ter)
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21348174T>G , CM000676.2:g.21348174T>G GRCh38
NC_000014.8:g.21816333T>G , CM000676.1:g.21816333T>G GRCh37
NC_000014.7:g.20886173T>G NCBI36
NG_008933.1:g.65198T>G

Transcript Alleles

HGVS Amino-acid Change
NM_020366.4:c.3620T>G MANE Select NP_065099.3:p.Leu1207Ter
ENST00000400017.7:c.3620T>G MANE Select ENSP00000382895.2:p.Leu1207Ter
NM_001377523.1:c.1598T>G NP_001364452.1:p.Leu533Ter
NM_001377948.1:c.2546T>G NP_001364877.1:p.Leu849Ter
NM_001377949.1:c.1706T>G NP_001364878.1:p.Leu569Ter
NM_001377950.1:c.1598T>G NP_001364879.1:p.Leu533Ter
NM_001377951.1:c.1103T>G NP_001364880.1:p.Leu368Ter
NM_020366.3:c.3620T>G NP_065099.3:p.Leu1207Ter
ENST00000382933.8:c.1598T>G ENSP00000372391.4:p.Leu533Ter
ENST00000400017.6:c.3620T>G ENSP00000382895.2:p.Leu1207Ter
ENST00000553927.1:n.2552T>G
ENST00000555322.5:c.2047T>G
ENST00000555489.5:c.1813T>G ENSP00000451044.1:n.1813T>G
ENST00000555587.5:c.2045T>G ENSP00000451262.1:p.Leu682Ter
ENST00000556336.5:c.2591T>G ENSP00000450445.1:p.Leu864Ter
ENST00000557771.5:c.3506T>G ENSP00000451219.1:p.Leu1169Ter
XM_005267879.2:c.2549T>G XP_005267936.1:p.Leu850Ter
XM_005267880.2:c.2516T>G XP_005267937.1:p.Leu839Ter
XM_005267881.2:c.1997T>G XP_005267938.1:p.Leu666Ter
XM_005267881.3:c.1997T>G XP_005267938.1:p.Leu666Ter
XM_011536978.1:c.2546T>G XP_011535280.1:p.Leu849Ter
XM_011536979.1:c.2333T>G XP_011535281.1:p.Leu778Ter
XM_011536980.1:c.2204T>G XP_011535282.1:p.Leu735Ter
XM_011536981.1:c.2054T>G XP_011535283.1:p.Leu685Ter
XM_011536982.1:c.1709T>G XP_011535284.1:p.Leu570Ter
XM_011536983.1:c.3587T>G XP_011535285.1:p.Leu1196Ter
XM_017021473.1:c.2051T>G XP_016876962.1:p.Leu684Ter
XM_024449663.1:c.2543T>G XP_024305431.1:p.Leu848Ter
XM_024449664.1:c.2048T>G XP_024305432.1:p.Leu683Ter
XM_024449665.1:c.1706T>G XP_024305433.1:p.Leu569Ter
XM_024449666.1:c.1703T>G XP_024305434.1:p.Leu568Ter