Canonical Allele Identifier: CA2624071604

Gene: RPGRIP1

Linked Data

• gnomAD v4: 14-21321803-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21321803T>C , CM000676.2:g.21321803T>C	GRCh38
NC_000014.8:g.21789962T>C , CM000676.1:g.21789962T>C	GRCh37
NC_000014.7:g.20859802T>C	NCBI36
NG_008933.1:g.38827T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000400017.7:c.1612-51T>C MANE Select	ENSP00000382895.2:n.1612-51T>C
ENST00000382933.8:c.538-51T>C	ENSP00000372391.4:n.538-51T>C
ENST00000400017.6:c.1612-51T>C	ENSP00000382895.2:n.1612-51T>C
ENST00000553500.5:n.70-51T>C
ENST00000554303.1:c.31-51T>C	ENSP00000450426.1:n.31-51T>C
ENST00000555322.5:c.149-54T>C
ENST00000555587.5:c.40-54T>C	ENSP00000451262.1:n.40-54T>C
ENST00000556336.5:c.1531-51T>C	ENSP00000450445.1:n.1531-51T>C
ENST00000557771.5:c.1531-51T>C	ENSP00000451219.1:n.1531-51T>C
NM_020366.3:c.1612-51T>C	NP_065099.3:n.1612-51T>C
XM_005267879.2:c.538-51T>C	XP_005267936.1:n.538-51T>C
XM_005267880.2:c.538-51T>C	XP_005267937.1:n.538-51T>C
XM_005267881.2:c.-15-51T>C	XP_005267938.1:n.-15-51T>C
XM_011536978.1:c.538-51T>C	XP_011535280.1:n.538-51T>C
XM_011536979.1:c.538-51T>C	XP_011535281.1:n.538-51T>C
XM_011536980.1:c.538-51T>C	XP_011535282.1:n.538-51T>C
XM_011536981.1:c.538-51T>C	XP_011535283.1:n.538-51T>C
XM_011536982.1:c.538-51T>C	XP_011535284.1:n.538-51T>C
XM_011536983.1:c.1579-51T>C	XP_011535285.1:n.1579-51T>C
XM_005267881.3:c.-15-51T>C	XP_005267938.1:n.-15-51T>C
XM_017021473.1:c.538-51T>C	XP_016876962.1:n.538-51T>C
XM_024449663.1:c.538-51T>C	XP_024305431.1:n.538-51T>C
XM_024449664.1:c.538-51T>C	XP_024305432.1:n.538-51T>C
XM_024449665.1:c.538-51T>C	XP_024305433.1:n.538-51T>C
XM_024449666.1:c.538-51T>C	XP_024305434.1:n.538-51T>C
NM_001377523.1:c.538-51T>C	NP_001364452.1:n.538-51T>C
NM_001377948.1:c.538-51T>C	NP_001364877.1:n.538-51T>C
NM_001377949.1:c.538-51T>C	NP_001364878.1:n.538-51T>C
NM_001377950.1:c.538-51T>C	NP_001364879.1:n.538-51T>C
NM_001377951.1:c.40-51T>C	NP_001364880.1:n.40-51T>C
NM_020366.4:c.1612-51T>C MANE Select	NP_065099.3:n.1612-51T>C