Canonical Allele Identifier: CA388866902

Gene: RPGRIP1

Linked Data

• COSMIC: COSM4892510 ; COSM4892511 ; COSM4892512
• MyVariant Identifiers: chr14:g.21792827G>A (hg19) ; chr14:g.21324668G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324668G>A , CM000676.2:g.21324668G>A	GRCh38
NC_000014.8:g.21792827G>A , CM000676.1:g.21792827G>A	GRCh37
NC_000014.7:g.20862667G>A	NCBI36
NG_008933.1:g.41692G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1813G>A MANE Select	ENSP00000382895.2:p.Glu605Lys
ENST00000382933.8:c.688+2664G>A	ENSP00000372391.4:n.688+2664G>A
ENST00000400017.6:c.1813G>A	ENSP00000382895.2:p.Glu605Lys
ENST00000553500.5:n.271G>A
ENST00000553927.1:n.745G>A
ENST00000554303.1:c.199G>A	ENSP00000450426.1:p.Glu67Lys
ENST00000555322.5:c.297-57G>A
ENST00000555489.5:c.155G>A	ENSP00000451044.1:p.Gly52Glu
ENST00000555587.5:c.238G>A	ENSP00000451262.1:p.Glu80Lys
ENST00000556336.5:c.1681+2664G>A	ENSP00000450445.1:n.1681+2664G>A
ENST00000557771.5:c.1699G>A	ENSP00000451219.1:p.Glu567Lys
NM_020366.3:c.1813G>A	NP_065099.3:p.Glu605Lys
XM_005267879.2:c.739G>A	XP_005267936.1:p.Glu247Lys
XM_005267880.2:c.706G>A	XP_005267937.1:p.Glu236Lys
XM_005267881.2:c.187G>A	XP_005267938.1:p.Glu63Lys
XM_011536978.1:c.739G>A	XP_011535280.1:p.Glu247Lys
XM_011536979.1:c.739G>A	XP_011535281.1:p.Glu247Lys
XM_011536980.1:c.739G>A	XP_011535282.1:p.Glu247Lys
XM_011536981.1:c.739G>A	XP_011535283.1:p.Glu247Lys
XM_011536982.1:c.739G>A	XP_011535284.1:p.Glu247Lys
XM_011536983.1:c.1780G>A	XP_011535285.1:p.Glu594Lys
XM_005267881.3:c.187G>A	XP_005267938.1:p.Glu63Lys
XM_017021473.1:c.739G>A	XP_016876962.1:p.Glu247Lys
XM_024449663.1:c.739G>A	XP_024305431.1:p.Glu247Lys
XM_024449664.1:c.739G>A	XP_024305432.1:p.Glu247Lys
XM_024449665.1:c.739G>A	XP_024305433.1:p.Glu247Lys
XM_024449666.1:c.739G>A	XP_024305434.1:p.Glu247Lys
NM_001377523.1:c.688+2664G>A	NP_001364452.1:n.688+2664G>A
NM_001377948.1:c.739G>A	NP_001364877.1:p.Glu247Lys
NM_001377949.1:c.739G>A	NP_001364878.1:p.Glu247Lys
NM_001377950.1:c.688+2664G>A	NP_001364879.1:n.688+2664G>A
NM_001377951.1:c.190+2664G>A	NP_001364880.1:n.190+2664G>A
NM_020366.4:c.1813G>A MANE Select	NP_065099.3:p.Glu605Lys