Canonical Allele Identifier: CA7089516
Community Standard Title: NM_020366.4(RPGRIP1):c.3448G>T (p.Asp1150Tyr)
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21343144G>T , CM000676.2:g.21343144G>T GRCh38
NC_000014.8:g.21811303G>T , CM000676.1:g.21811303G>T GRCh37
NC_000014.7:g.20881143G>T NCBI36
NG_008933.1:g.60168G>T

Transcript Alleles

HGVS Amino-acid Change
NM_020366.4:c.3448G>T MANE Select NP_065099.3:p.Asp1150Tyr
ENST00000400017.7:c.3448G>T MANE Select ENSP00000382895.2:p.Asp1150Tyr
NM_001377523.1:c.1426G>T NP_001364452.1:p.Asp476Tyr
NM_001377948.1:c.2374G>T NP_001364877.1:p.Asp792Tyr
NM_001377949.1:c.1534G>T NP_001364878.1:p.Asp512Tyr
NM_001377950.1:c.1426G>T NP_001364879.1:p.Asp476Tyr
NM_001377951.1:c.931G>T NP_001364880.1:p.Asp311Tyr
NM_020366.3:c.3448G>T NP_065099.3:p.Asp1150Tyr
ENST00000382933.8:c.1426G>T ENSP00000372391.4:p.Asp476Tyr
ENST00000400017.6:c.3448G>T ENSP00000382895.2:p.Asp1150Tyr
ENST00000553927.1:n.2380G>T
ENST00000555322.5:c.1875G>T
ENST00000555489.5:c.1641G>T ENSP00000451044.1:n.1641G>T
ENST00000555587.5:c.1873G>T ENSP00000451262.1:p.Asp625Tyr
ENST00000556336.5:c.2419G>T ENSP00000450445.1:p.Asp807Tyr
ENST00000557606.1:c.381G>T
ENST00000557771.5:c.3334G>T ENSP00000451219.1:p.Asp1112Tyr
XM_005267879.2:c.2377G>T XP_005267936.1:p.Asp793Tyr
XM_005267880.2:c.2344G>T XP_005267937.1:p.Asp782Tyr
XM_005267881.2:c.1825G>T XP_005267938.1:p.Asp609Tyr
XM_005267881.3:c.1825G>T XP_005267938.1:p.Asp609Tyr
XM_011536978.1:c.2374G>T XP_011535280.1:p.Asp792Tyr
XM_011536979.1:c.2161G>T XP_011535281.1:p.Asp721Tyr
XM_011536980.1:c.2032G>T XP_011535282.1:p.Asp678Tyr
XM_011536981.1:c.1882G>T XP_011535283.1:p.Asp628Tyr
XM_011536982.1:c.1537G>T XP_011535284.1:p.Asp513Tyr
XM_011536983.1:c.3415G>T XP_011535285.1:p.Asp1139Tyr
XM_017021473.1:c.1879G>T XP_016876962.1:p.Asp627Tyr
XM_024449663.1:c.2371G>T XP_024305431.1:p.Asp791Tyr
XM_024449664.1:c.1876G>T XP_024305432.1:p.Asp626Tyr
XM_024449665.1:c.1534G>T XP_024305433.1:p.Asp512Tyr
XM_024449666.1:c.1531G>T XP_024305434.1:p.Asp511Tyr