Canonical Allele Identifier: CA388867822

Gene: RPGRIP1

Linked Data

• gnomAD v4: 14-21324927-T-A
• MyVariant Identifiers: chr14:g.21793086T>A (hg19) ; chr14:g.21324927T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324927T>A , CM000676.2:g.21324927T>A	GRCh38
NC_000014.8:g.21793086T>A , CM000676.1:g.21793086T>A	GRCh37
NC_000014.7:g.20862926T>A	NCBI36
NG_008933.1:g.41951T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.2072T>A MANE Select	ENSP00000382895.2:p.Leu691Ter
ENST00000382933.8:c.689-2696T>A	ENSP00000372391.4:n.689-2696T>A
ENST00000400017.6:c.2072T>A	ENSP00000382895.2:p.Leu691Ter
ENST00000553500.5:n.328+202T>A
ENST00000553927.1:n.1004T>A
ENST00000555322.5:c.499T>A
ENST00000555489.5:c.265T>A	ENSP00000451044.1:n.265T>A
ENST00000555587.5:c.497T>A	ENSP00000451262.1:p.Leu166Ter
ENST00000556336.5:c.1682-2696T>A	ENSP00000450445.1:n.1682-2696T>A
ENST00000557771.5:c.1958T>A	ENSP00000451219.1:p.Leu653Ter
NM_020366.3:c.2072T>A	NP_065099.3:p.Leu691Ter
XM_005267879.2:c.998T>A	XP_005267936.1:p.Leu333Ter
XM_005267880.2:c.965T>A	XP_005267937.1:p.Leu322Ter
XM_005267881.2:c.446T>A	XP_005267938.1:p.Leu149Ter
XM_011536978.1:c.998T>A	XP_011535280.1:p.Leu333Ter
XM_011536979.1:c.797-15T>A	XP_011535281.1:n.797-15T>A
XM_011536980.1:c.796+202T>A	XP_011535282.1:n.796+202T>A
XM_011536981.1:c.998T>A	XP_011535283.1:p.Leu333Ter
XM_011536982.1:c.796+202T>A	XP_011535284.1:n.796+202T>A
XM_011536983.1:c.2039T>A	XP_011535285.1:p.Leu680Ter
XM_005267881.3:c.446T>A	XP_005267938.1:p.Leu149Ter
XM_017021473.1:c.998T>A	XP_016876962.1:p.Leu333Ter
XM_024449663.1:c.998T>A	XP_024305431.1:p.Leu333Ter
XM_024449664.1:c.998T>A	XP_024305432.1:p.Leu333Ter
XM_024449665.1:c.796+202T>A	XP_024305433.1:n.796+202T>A
XM_024449666.1:c.796+202T>A	XP_024305434.1:n.796+202T>A
NM_001377523.1:c.689-2696T>A	NP_001364452.1:n.689-2696T>A
NM_001377948.1:c.998T>A	NP_001364877.1:p.Leu333Ter
NM_001377949.1:c.796+202T>A	NP_001364878.1:n.796+202T>A
NM_001377950.1:c.689-2696T>A	NP_001364879.1:n.689-2696T>A
NM_001377951.1:c.191-2696T>A	NP_001364880.1:n.191-2696T>A
NM_020366.4:c.2072T>A MANE Select	NP_065099.3:p.Leu691Ter