Canonical Allele Identifier: CA203531
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5736
dbSNP Id: rs137853137

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197427726A>T , CM000663.2:g.197427726A>T GRCh38
NC_000001.10:g.197396856A>T , CM000663.1:g.197396856A>T GRCh37
NC_000001.9:g.195663479A>T NCBI36
NG_008483.1:g.164449A>T
NG_008483.2:g.231265A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.2401A>T MANE Select ENSP00000356370.3:p.Lys801Ter
ENST00000638467.1:c.2401A>T ENSP00000491102.1:p.Lys801Ter
ENST00000681519.1:c.1282A>T ENSP00000505267.1:p.Lys428Ter
ENST00000367397.1:c.544A>T ENSP00000356367.1:p.Lys182Ter
ENST00000367399.6:c.2065A>T ENSP00000356369.2:p.Lys689Ter
ENST00000367400.7:c.2401A>T ENSP00000356370.3:p.Lys801Ter
ENST00000480086.2:n.302A>T
ENST00000484075.5:c.2401A>T ENSP00000433932.1:p.Lys801Ter
ENST00000535699.5:c.2194A>T ENSP00000438786.1:p.Lys732Ter
ENST00000538660.5:c.2128+5770A>T ENSP00000438091.1:n.2128+5770A>T
NM_001193640.1:c.2065A>T NP_001180569.1:p.Lys689Ter
NM_001257965.1:c.2194A>T NP_001244894.1:p.Lys732Ter
NM_001257966.1:c.2128+5770A>T NP_001244895.1:n.2128+5770A>T
NM_201253.2:c.2401A>T NP_957705.1:p.Lys801Ter
NR_047563.1:n.2402A>T
NR_047564.1:n.2610A>T
XM_011509365.1:c.2401A>T XP_011507667.1:p.Lys801Ter
XM_011509366.1:c.2401A>T XP_011507668.1:p.Lys801Ter
XM_011509367.1:c.2401A>T XP_011507669.1:p.Lys801Ter
XM_011509368.1:c.1819A>T XP_011507670.1:p.Lys607Ter
XM_011509369.1:c.844A>T XP_011507671.1:p.Lys282Ter
XM_011509365.2:c.2401A>T XP_011507667.1:p.Lys801Ter
XM_011509369.2:c.844A>T XP_011507671.1:p.Lys282Ter
XM_017000851.1:c.1558A>T XP_016856340.1:p.Lys520Ter
XM_017000852.1:c.2401A>T XP_016856341.1:p.Lys801Ter
NM_201253.3:c.2401A>T MANE Select NP_957705.1:p.Lys801Ter
NM_001193640.2:c.2065A>T NP_001180569.1:p.Lys689Ter
NM_001257965.2:c.2194A>T NP_001244894.1:p.Lys732Ter
NR_047563.2:n.2354A>T
NR_047564.2:n.2562A>T
NM_001257966.2:c.2128+5770A>T NP_001244895.1:n.2128+5770A>T