Canonical Allele Identifier: CA484986339
Gene: RPGRIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.21793021T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21324862T>C , CM000676.2:g.21324862T>C GRCh38
NC_000014.8:g.21793021T>C , CM000676.1:g.21793021T>C GRCh37
NC_000014.7:g.20862861T>C NCBI36
NG_008933.1:g.41886T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.2007T>C MANE Select ENSP00000382895.2:p.Ser669=
ENST00000382933.8:c.689-2761T>C ENSP00000372391.4:n.689-2761T>C
ENST00000400017.6:c.2007T>C ENSP00000382895.2:p.Ser669=
ENST00000553500.5:n.328+137T>C
ENST00000553927.1:n.939T>C
ENST00000554303.1:c.393T>C ENSP00000450426.1:p.Ser131=
ENST00000555322.5:c.434T>C
ENST00000555489.5:c.213-13T>C ENSP00000451044.1:n.213-13T>C
ENST00000555587.5:c.432T>C ENSP00000451262.1:p.Ser144=
ENST00000556336.5:c.1682-2761T>C ENSP00000450445.1:n.1682-2761T>C
ENST00000557771.5:c.1893T>C ENSP00000451219.1:p.Ser631=
NM_020366.3:c.2007T>C NP_065099.3:p.Ser669=
XM_005267879.2:c.933T>C XP_005267936.1:p.Ser311=
XM_005267880.2:c.900T>C XP_005267937.1:p.Ser300=
XM_005267881.2:c.381T>C XP_005267938.1:p.Ser127=
XM_011536978.1:c.933T>C XP_011535280.1:p.Ser311=
XM_011536979.1:c.797-80T>C XP_011535281.1:n.797-80T>C
XM_011536980.1:c.796+137T>C XP_011535282.1:n.796+137T>C
XM_011536981.1:c.933T>C XP_011535283.1:p.Ser311=
XM_011536982.1:c.796+137T>C XP_011535284.1:n.796+137T>C
XM_011536983.1:c.1974T>C XP_011535285.1:p.Ser658=
XM_005267881.3:c.381T>C XP_005267938.1:p.Ser127=
XM_017021473.1:c.933T>C XP_016876962.1:p.Ser311=
XM_024449663.1:c.933T>C XP_024305431.1:p.Ser311=
XM_024449664.1:c.933T>C XP_024305432.1:p.Ser311=
XM_024449665.1:c.796+137T>C XP_024305433.1:n.796+137T>C
XM_024449666.1:c.796+137T>C XP_024305434.1:n.796+137T>C
NM_001377523.1:c.689-2761T>C NP_001364452.1:n.689-2761T>C
NM_001377948.1:c.933T>C NP_001364877.1:p.Ser311=
NM_001377949.1:c.796+137T>C NP_001364878.1:n.796+137T>C
NM_001377950.1:c.689-2761T>C NP_001364879.1:n.689-2761T>C
NM_001377951.1:c.191-2761T>C NP_001364880.1:n.191-2761T>C
NM_020366.4:c.2007T>C MANE Select NP_065099.3:p.Ser669=