Canonical Allele Identifier: CA388867320

Gene: RPGRIP1

Linked Data

• gnomAD v4: 14-21324794-G-T
• MyVariant Identifiers: chr14:g.21792953G>T (hg19) ; chr14:g.21324794G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324794G>T , CM000676.2:g.21324794G>T	GRCh38
NC_000014.8:g.21792953G>T , CM000676.1:g.21792953G>T	GRCh37
NC_000014.7:g.20862793G>T	NCBI36
NG_008933.1:g.41818G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1939G>T MANE Select	ENSP00000382895.2:p.Asp647Tyr
ENST00000382933.8:c.688+2790G>T	ENSP00000372391.4:n.688+2790G>T
ENST00000400017.6:c.1939G>T	ENSP00000382895.2:p.Asp647Tyr
ENST00000553500.5:n.328+69G>T
ENST00000553927.1:n.871G>T
ENST00000554303.1:c.325G>T	ENSP00000450426.1:p.Asp109Tyr
ENST00000555322.5:c.366G>T
ENST00000555489.5:c.212+69G>T	ENSP00000451044.1:n.212+69G>T
ENST00000555587.5:c.364G>T	ENSP00000451262.1:p.Asp122Tyr
ENST00000556336.5:c.1681+2790G>T	ENSP00000450445.1:n.1681+2790G>T
ENST00000557771.5:c.1825G>T	ENSP00000451219.1:p.Asp609Tyr
NM_020366.3:c.1939G>T	NP_065099.3:p.Asp647Tyr
XM_005267879.2:c.865G>T	XP_005267936.1:p.Asp289Tyr
XM_005267880.2:c.832G>T	XP_005267937.1:p.Asp278Tyr
XM_005267881.2:c.313G>T	XP_005267938.1:p.Asp105Tyr
XM_011536978.1:c.865G>T	XP_011535280.1:p.Asp289Tyr
XM_011536979.1:c.796+69G>T	XP_011535281.1:n.796+69G>T
XM_011536980.1:c.796+69G>T	XP_011535282.1:n.796+69G>T
XM_011536981.1:c.865G>T	XP_011535283.1:p.Asp289Tyr
XM_011536982.1:c.796+69G>T	XP_011535284.1:n.796+69G>T
XM_011536983.1:c.1906G>T	XP_011535285.1:p.Asp636Tyr
XM_005267881.3:c.313G>T	XP_005267938.1:p.Asp105Tyr
XM_017021473.1:c.865G>T	XP_016876962.1:p.Asp289Tyr
XM_024449663.1:c.865G>T	XP_024305431.1:p.Asp289Tyr
XM_024449664.1:c.865G>T	XP_024305432.1:p.Asp289Tyr
XM_024449665.1:c.796+69G>T	XP_024305433.1:n.796+69G>T
XM_024449666.1:c.796+69G>T	XP_024305434.1:n.796+69G>T
NM_001377523.1:c.688+2790G>T	NP_001364452.1:n.688+2790G>T
NM_001377948.1:c.865G>T	NP_001364877.1:p.Asp289Tyr
NM_001377949.1:c.796+69G>T	NP_001364878.1:n.796+69G>T
NM_001377950.1:c.688+2790G>T	NP_001364879.1:n.688+2790G>T
NM_001377951.1:c.190+2790G>T	NP_001364880.1:n.190+2790G>T
NM_020366.4:c.1939G>T MANE Select	NP_065099.3:p.Asp647Tyr