Canonical Allele Identifier: CA484986327

Gene: RPGRIP1

Linked Data

• gnomAD v4: 14-21324844-C-T
• MyVariant Identifiers: chr14:g.21793003C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324844C>T , CM000676.2:g.21324844C>T	GRCh38
NC_000014.8:g.21793003C>T , CM000676.1:g.21793003C>T	GRCh37
NC_000014.7:g.20862843C>T	NCBI36
NG_008933.1:g.41868C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1989C>T MANE Select	ENSP00000382895.2:p.Thr663=
ENST00000382933.8:c.689-2779C>T	ENSP00000372391.4:n.689-2779C>T
ENST00000400017.6:c.1989C>T	ENSP00000382895.2:p.Thr663=
ENST00000553500.5:n.328+119C>T
ENST00000553927.1:n.921C>T
ENST00000554303.1:c.375C>T	ENSP00000450426.1:p.Thr125=
ENST00000555322.5:c.416C>T
ENST00000555489.5:c.213-31C>T	ENSP00000451044.1:n.213-31C>T
ENST00000555587.5:c.414C>T	ENSP00000451262.1:p.Thr138=
ENST00000556336.5:c.1682-2779C>T	ENSP00000450445.1:n.1682-2779C>T
ENST00000557771.5:c.1875C>T	ENSP00000451219.1:p.Thr625=
NM_020366.3:c.1989C>T	NP_065099.3:p.Thr663=
XM_005267879.2:c.915C>T	XP_005267936.1:p.Thr305=
XM_005267880.2:c.882C>T	XP_005267937.1:p.Thr294=
XM_005267881.2:c.363C>T	XP_005267938.1:p.Thr121=
XM_011536978.1:c.915C>T	XP_011535280.1:p.Thr305=
XM_011536979.1:c.797-98C>T	XP_011535281.1:n.797-98C>T
XM_011536980.1:c.796+119C>T	XP_011535282.1:n.796+119C>T
XM_011536981.1:c.915C>T	XP_011535283.1:p.Thr305=
XM_011536982.1:c.796+119C>T	XP_011535284.1:n.796+119C>T
XM_011536983.1:c.1956C>T	XP_011535285.1:p.Thr652=
XM_005267881.3:c.363C>T	XP_005267938.1:p.Thr121=
XM_017021473.1:c.915C>T	XP_016876962.1:p.Thr305=
XM_024449663.1:c.915C>T	XP_024305431.1:p.Thr305=
XM_024449664.1:c.915C>T	XP_024305432.1:p.Thr305=
XM_024449665.1:c.796+119C>T	XP_024305433.1:n.796+119C>T
XM_024449666.1:c.796+119C>T	XP_024305434.1:n.796+119C>T
NM_001377523.1:c.689-2779C>T	NP_001364452.1:n.689-2779C>T
NM_001377948.1:c.915C>T	NP_001364877.1:p.Thr305=
NM_001377949.1:c.796+119C>T	NP_001364878.1:n.796+119C>T
NM_001377950.1:c.689-2779C>T	NP_001364879.1:n.689-2779C>T
NM_001377951.1:c.191-2779C>T	NP_001364880.1:n.191-2779C>T
NM_020366.4:c.1989C>T MANE Select	NP_065099.3:p.Thr663=