Canonical Allele Identifier: CA388867506

Gene: RPGRIP1

Linked Data

• MyVariant Identifiers: chr14:g.21793008G>T (hg19) ; chr14:g.21324849G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324849G>T , CM000676.2:g.21324849G>T	GRCh38
NC_000014.8:g.21793008G>T , CM000676.1:g.21793008G>T	GRCh37
NC_000014.7:g.20862848G>T	NCBI36
NG_008933.1:g.41873G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1994G>T MANE Select	ENSP00000382895.2:p.Cys665Phe
ENST00000382933.8:c.689-2774G>T	ENSP00000372391.4:n.689-2774G>T
ENST00000400017.6:c.1994G>T	ENSP00000382895.2:p.Cys665Phe
ENST00000553500.5:n.328+124G>T
ENST00000553927.1:n.926G>T
ENST00000554303.1:c.380G>T	ENSP00000450426.1:p.Cys127Phe
ENST00000555322.5:c.421G>T
ENST00000555489.5:c.213-26G>T	ENSP00000451044.1:n.213-26G>T
ENST00000555587.5:c.419G>T	ENSP00000451262.1:p.Cys140Phe
ENST00000556336.5:c.1682-2774G>T	ENSP00000450445.1:n.1682-2774G>T
ENST00000557771.5:c.1880G>T	ENSP00000451219.1:p.Cys627Phe
NM_020366.3:c.1994G>T	NP_065099.3:p.Cys665Phe
XM_005267879.2:c.920G>T	XP_005267936.1:p.Cys307Phe
XM_005267880.2:c.887G>T	XP_005267937.1:p.Cys296Phe
XM_005267881.2:c.368G>T	XP_005267938.1:p.Cys123Phe
XM_011536978.1:c.920G>T	XP_011535280.1:p.Cys307Phe
XM_011536979.1:c.797-93G>T	XP_011535281.1:n.797-93G>T
XM_011536980.1:c.796+124G>T	XP_011535282.1:n.796+124G>T
XM_011536981.1:c.920G>T	XP_011535283.1:p.Cys307Phe
XM_011536982.1:c.796+124G>T	XP_011535284.1:n.796+124G>T
XM_011536983.1:c.1961G>T	XP_011535285.1:p.Cys654Phe
XM_005267881.3:c.368G>T	XP_005267938.1:p.Cys123Phe
XM_017021473.1:c.920G>T	XP_016876962.1:p.Cys307Phe
XM_024449663.1:c.920G>T	XP_024305431.1:p.Cys307Phe
XM_024449664.1:c.920G>T	XP_024305432.1:p.Cys307Phe
XM_024449665.1:c.796+124G>T	XP_024305433.1:n.796+124G>T
XM_024449666.1:c.796+124G>T	XP_024305434.1:n.796+124G>T
NM_001377523.1:c.689-2774G>T	NP_001364452.1:n.689-2774G>T
NM_001377948.1:c.920G>T	NP_001364877.1:p.Cys307Phe
NM_001377949.1:c.796+124G>T	NP_001364878.1:n.796+124G>T
NM_001377950.1:c.689-2774G>T	NP_001364879.1:n.689-2774G>T
NM_001377951.1:c.191-2774G>T	NP_001364880.1:n.191-2774G>T
NM_020366.4:c.1994G>T MANE Select	NP_065099.3:p.Cys665Phe