Canonical Allele Identifier: CA10581688
Gene: RPGRIP1 HGNC NCBI

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)
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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
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