Canonical Allele Identifier: CA484986023

Gene: RPGRIP1

Linked Data

• dbSNP Id: rs9322965
• MyVariant Identifiers: chr14:g.21792811G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324652G>T , CM000676.2:g.21324652G>T	GRCh38
NC_000014.8:g.21792811G>T , CM000676.1:g.21792811G>T	GRCh37
NC_000014.7:g.20862651G>T	NCBI36
NG_008933.1:g.41676G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1797G>T MANE Select	ENSP00000382895.2:p.Pro599=
ENST00000382933.8:c.688+2648G>T	ENSP00000372391.4:n.688+2648G>T
ENST00000400017.6:c.1797G>T	ENSP00000382895.2:p.Pro599=
ENST00000553500.5:n.255G>T
ENST00000553927.1:n.729G>T
ENST00000554303.1:c.183G>T	ENSP00000450426.1:p.Pro61=
ENST00000555322.5:c.297-73G>T
ENST00000555489.5:c.139G>T	ENSP00000451044.1:p.Val47Phe
ENST00000555587.5:c.222G>T	ENSP00000451262.1:p.Pro74=
ENST00000556336.5:c.1681+2648G>T	ENSP00000450445.1:n.1681+2648G>T
ENST00000557771.5:c.1683G>T	ENSP00000451219.1:p.Pro561=
NM_020366.3:c.1797G>T	NP_065099.3:p.Pro599=
XM_005267879.2:c.723G>T	XP_005267936.1:p.Pro241=
XM_005267880.2:c.690G>T	XP_005267937.1:p.Pro230=
XM_005267881.2:c.171G>T	XP_005267938.1:p.Pro57=
XM_011536978.1:c.723G>T	XP_011535280.1:p.Pro241=
XM_011536979.1:c.723G>T	XP_011535281.1:p.Pro241=
XM_011536980.1:c.723G>T	XP_011535282.1:p.Pro241=
XM_011536981.1:c.723G>T	XP_011535283.1:p.Pro241=
XM_011536982.1:c.723G>T	XP_011535284.1:p.Pro241=
XM_011536983.1:c.1764G>T	XP_011535285.1:p.Pro588=
XM_005267881.3:c.171G>T	XP_005267938.1:p.Pro57=
XM_017021473.1:c.723G>T	XP_016876962.1:p.Pro241=
XM_024449663.1:c.723G>T	XP_024305431.1:p.Pro241=
XM_024449664.1:c.723G>T	XP_024305432.1:p.Pro241=
XM_024449665.1:c.723G>T	XP_024305433.1:p.Pro241=
XM_024449666.1:c.723G>T	XP_024305434.1:p.Pro241=
NM_001377523.1:c.688+2648G>T	NP_001364452.1:n.688+2648G>T
NM_001377948.1:c.723G>T	NP_001364877.1:p.Pro241=
NM_001377949.1:c.723G>T	NP_001364878.1:p.Pro241=
NM_001377950.1:c.688+2648G>T	NP_001364879.1:n.688+2648G>T
NM_001377951.1:c.190+2648G>T	NP_001364880.1:n.190+2648G>T
NM_020366.4:c.1797G>T MANE Select	NP_065099.3:p.Pro599=