Canonical Allele Identifier: CA388866955

Gene: RPGRIP1

Linked Data

• MyVariant Identifiers: chr14:g.21792852A>T (hg19) ; chr14:g.21324693A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324693A>T , CM000676.2:g.21324693A>T	GRCh38
NC_000014.8:g.21792852A>T , CM000676.1:g.21792852A>T	GRCh37
NC_000014.7:g.20862692A>T	NCBI36
NG_008933.1:g.41717A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1838A>T MANE Select	ENSP00000382895.2:p.Glu613Val
ENST00000382933.8:c.688+2689A>T	ENSP00000372391.4:n.688+2689A>T
ENST00000400017.6:c.1838A>T	ENSP00000382895.2:p.Glu613Val
ENST00000553500.5:n.296A>T
ENST00000553927.1:n.770A>T
ENST00000554303.1:c.224A>T	ENSP00000450426.1:p.Glu75Val
ENST00000555322.5:c.297-32A>T
ENST00000555489.5:c.180A>T	ENSP00000451044.1:p.Ter60Cys
ENST00000555587.5:c.263A>T	ENSP00000451262.1:p.Glu88Val
ENST00000556336.5:c.1681+2689A>T	ENSP00000450445.1:n.1681+2689A>T
ENST00000557771.5:c.1724A>T	ENSP00000451219.1:p.Glu575Val
NM_020366.3:c.1838A>T	NP_065099.3:p.Glu613Val
XM_005267879.2:c.764A>T	XP_005267936.1:p.Glu255Val
XM_005267880.2:c.731A>T	XP_005267937.1:p.Glu244Val
XM_005267881.2:c.212A>T	XP_005267938.1:p.Glu71Val
XM_011536978.1:c.764A>T	XP_011535280.1:p.Glu255Val
XM_011536979.1:c.764A>T	XP_011535281.1:p.Glu255Val
XM_011536980.1:c.764A>T	XP_011535282.1:p.Glu255Val
XM_011536981.1:c.764A>T	XP_011535283.1:p.Glu255Val
XM_011536982.1:c.764A>T	XP_011535284.1:p.Glu255Val
XM_011536983.1:c.1805A>T	XP_011535285.1:p.Glu602Val
XM_005267881.3:c.212A>T	XP_005267938.1:p.Glu71Val
XM_017021473.1:c.764A>T	XP_016876962.1:p.Glu255Val
XM_024449663.1:c.764A>T	XP_024305431.1:p.Glu255Val
XM_024449664.1:c.764A>T	XP_024305432.1:p.Glu255Val
XM_024449665.1:c.764A>T	XP_024305433.1:p.Glu255Val
XM_024449666.1:c.764A>T	XP_024305434.1:p.Glu255Val
NM_001377523.1:c.688+2689A>T	NP_001364452.1:n.688+2689A>T
NM_001377948.1:c.764A>T	NP_001364877.1:p.Glu255Val
NM_001377949.1:c.764A>T	NP_001364878.1:p.Glu255Val
NM_001377950.1:c.688+2689A>T	NP_001364879.1:n.688+2689A>T
NM_001377951.1:c.190+2689A>T	NP_001364880.1:n.190+2689A>T
NM_020366.4:c.1838A>T MANE Select	NP_065099.3:p.Glu613Val