Canonical Allele Identifier: CA484986333
Gene: RPGRIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.21793015A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21324856A>C , CM000676.2:g.21324856A>C GRCh38
NC_000014.8:g.21793015A>C , CM000676.1:g.21793015A>C GRCh37
NC_000014.7:g.20862855A>C NCBI36
NG_008933.1:g.41880A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.2001A>C MANE Select ENSP00000382895.2:p.Pro667=
ENST00000382933.8:c.689-2767A>C ENSP00000372391.4:n.689-2767A>C
ENST00000400017.6:c.2001A>C ENSP00000382895.2:p.Pro667=
ENST00000553500.5:n.328+131A>C
ENST00000553927.1:n.933A>C
ENST00000554303.1:c.387A>C ENSP00000450426.1:p.Pro129=
ENST00000555322.5:c.428A>C
ENST00000555489.5:c.213-19A>C ENSP00000451044.1:n.213-19A>C
ENST00000555587.5:c.426A>C ENSP00000451262.1:p.Pro142=
ENST00000556336.5:c.1682-2767A>C ENSP00000450445.1:n.1682-2767A>C
ENST00000557771.5:c.1887A>C ENSP00000451219.1:p.Pro629=
NM_020366.3:c.2001A>C NP_065099.3:p.Pro667=
XM_005267879.2:c.927A>C XP_005267936.1:p.Pro309=
XM_005267880.2:c.894A>C XP_005267937.1:p.Pro298=
XM_005267881.2:c.375A>C XP_005267938.1:p.Pro125=
XM_011536978.1:c.927A>C XP_011535280.1:p.Pro309=
XM_011536979.1:c.797-86A>C XP_011535281.1:n.797-86A>C
XM_011536980.1:c.796+131A>C XP_011535282.1:n.796+131A>C
XM_011536981.1:c.927A>C XP_011535283.1:p.Pro309=
XM_011536982.1:c.796+131A>C XP_011535284.1:n.796+131A>C
XM_011536983.1:c.1968A>C XP_011535285.1:p.Pro656=
XM_005267881.3:c.375A>C XP_005267938.1:p.Pro125=
XM_017021473.1:c.927A>C XP_016876962.1:p.Pro309=
XM_024449663.1:c.927A>C XP_024305431.1:p.Pro309=
XM_024449664.1:c.927A>C XP_024305432.1:p.Pro309=
XM_024449665.1:c.796+131A>C XP_024305433.1:n.796+131A>C
XM_024449666.1:c.796+131A>C XP_024305434.1:n.796+131A>C
NM_001377523.1:c.689-2767A>C NP_001364452.1:n.689-2767A>C
NM_001377948.1:c.927A>C NP_001364877.1:p.Pro309=
NM_001377949.1:c.796+131A>C NP_001364878.1:n.796+131A>C
NM_001377950.1:c.689-2767A>C NP_001364879.1:n.689-2767A>C
NM_001377951.1:c.191-2767A>C NP_001364880.1:n.191-2767A>C
NM_020366.4:c.2001A>C MANE Select NP_065099.3:p.Pro667=