Canonical Allele Identifier: CA388867339

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 1284419
• ClinVar RCV Id: RCV001699937
• dbSNP Id: rs1740380459
• gnomAD v4: 14-21324803-C-T
• MyVariant Identifiers: chr14:g.21792962C>T (hg19) ; chr14:g.21324803C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324803C>T , CM000676.2:g.21324803C>T	GRCh38
NC_000014.8:g.21792962C>T , CM000676.1:g.21792962C>T	GRCh37
NC_000014.7:g.20862802C>T	NCBI36
NG_008933.1:g.41827C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1948C>T MANE Select	ENSP00000382895.2:p.Pro650Ser
ENST00000382933.8:c.688+2799C>T	ENSP00000372391.4:n.688+2799C>T
ENST00000400017.6:c.1948C>T	ENSP00000382895.2:p.Pro650Ser
ENST00000553500.5:n.328+78C>T
ENST00000553927.1:n.880C>T
ENST00000554303.1:c.334C>T	ENSP00000450426.1:p.Pro112Ser
ENST00000555322.5:c.375C>T
ENST00000555489.5:c.213-72C>T	ENSP00000451044.1:n.213-72C>T
ENST00000555587.5:c.373C>T	ENSP00000451262.1:p.Pro125Ser
ENST00000556336.5:c.1681+2799C>T	ENSP00000450445.1:n.1681+2799C>T
ENST00000557771.5:c.1834C>T	ENSP00000451219.1:p.Pro612Ser
NM_020366.3:c.1948C>T	NP_065099.3:p.Pro650Ser
XM_005267879.2:c.874C>T	XP_005267936.1:p.Pro292Ser
XM_005267880.2:c.841C>T	XP_005267937.1:p.Pro281Ser
XM_005267881.2:c.322C>T	XP_005267938.1:p.Pro108Ser
XM_011536978.1:c.874C>T	XP_011535280.1:p.Pro292Ser
XM_011536979.1:c.796+78C>T	XP_011535281.1:n.796+78C>T
XM_011536980.1:c.796+78C>T	XP_011535282.1:n.796+78C>T
XM_011536981.1:c.874C>T	XP_011535283.1:p.Pro292Ser
XM_011536982.1:c.796+78C>T	XP_011535284.1:n.796+78C>T
XM_011536983.1:c.1915C>T	XP_011535285.1:p.Pro639Ser
XM_005267881.3:c.322C>T	XP_005267938.1:p.Pro108Ser
XM_017021473.1:c.874C>T	XP_016876962.1:p.Pro292Ser
XM_024449663.1:c.874C>T	XP_024305431.1:p.Pro292Ser
XM_024449664.1:c.874C>T	XP_024305432.1:p.Pro292Ser
XM_024449665.1:c.796+78C>T	XP_024305433.1:n.796+78C>T
XM_024449666.1:c.796+78C>T	XP_024305434.1:n.796+78C>T
NM_001377523.1:c.688+2799C>T	NP_001364452.1:n.688+2799C>T
NM_001377948.1:c.874C>T	NP_001364877.1:p.Pro292Ser
NM_001377949.1:c.796+78C>T	NP_001364878.1:n.796+78C>T
NM_001377950.1:c.688+2799C>T	NP_001364879.1:n.688+2799C>T
NM_001377951.1:c.190+2799C>T	NP_001364880.1:n.190+2799C>T
NM_020366.4:c.1948C>T MANE Select	NP_065099.3:p.Pro650Ser