Canonical Allele Identifier: CA10581688

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 236506
• ClinVar RCV Id: RCV000225543 ; RCV001198056
• dbSNP Id: rs878853392
• gnomAD v4: 14-21317847-A-T
• MyVariant Identifiers: chr14:g.21786006A>T (hg19) ; chr14:g.21317847A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21317847A>T , CM000676.2:g.21317847A>T	GRCh38
NC_000014.8:g.21786006A>T , CM000676.1:g.21786006A>T	GRCh37
NC_000014.7:g.20855846A>T	NCBI36
NG_008933.1:g.34871A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1303A>T MANE Select	ENSP00000382895.2:p.Lys435Ter
ENST00000382933.8:c.229A>T	ENSP00000372391.4:p.Lys77Ter
ENST00000400017.6:c.1303A>T	ENSP00000382895.2:p.Lys435Ter
ENST00000556336.5:c.1222A>T	ENSP00000450445.1:p.Lys408Ter
ENST00000557351.1:c.229A>T	ENSP00000452215.1:p.Lys77Ter
ENST00000557771.5:c.1222A>T	ENSP00000451219.1:p.Lys408Ter
NM_020366.3:c.1303A>T	NP_065099.3:p.Lys435Ter
XM_005267879.2:c.229A>T	XP_005267936.1:p.Lys77Ter
XM_005267880.2:c.229A>T	XP_005267937.1:p.Lys77Ter
XM_011536978.1:c.229A>T	XP_011535280.1:p.Lys77Ter
XM_011536979.1:c.229A>T	XP_011535281.1:p.Lys77Ter
XM_011536980.1:c.229A>T	XP_011535282.1:p.Lys77Ter
XM_011536981.1:c.229A>T	XP_011535283.1:p.Lys77Ter
XM_011536982.1:c.229A>T	XP_011535284.1:p.Lys77Ter
XM_011536983.1:c.1270A>T	XP_011535285.1:p.Lys424Ter
XM_017021473.1:c.229A>T	XP_016876962.1:p.Lys77Ter
XM_024449663.1:c.229A>T	XP_024305431.1:p.Lys77Ter
XM_024449664.1:c.229A>T	XP_024305432.1:p.Lys77Ter
XM_024449665.1:c.229A>T	XP_024305433.1:p.Lys77Ter
XM_024449666.1:c.229A>T	XP_024305434.1:p.Lys77Ter
NM_001377523.1:c.229A>T	NP_001364452.1:p.Lys77Ter
NM_001377948.1:c.229A>T	NP_001364877.1:p.Lys77Ter
NM_001377949.1:c.229A>T	NP_001364878.1:p.Lys77Ter
NM_001377950.1:c.229A>T	NP_001364879.1:p.Lys77Ter
NM_020366.4:c.1303A>T MANE Select	NP_065099.3:p.Lys435Ter