Canonical Allele Identifier: CA170083
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 143167
dbSNP Id: rs114342808
COSMIC: COSM414721

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197421404C>T , CM000663.2:g.197421404C>T GRCh38
NC_000001.10:g.197390534C>T , CM000663.1:g.197390534C>T GRCh37
NC_000001.9:g.195657157C>T NCBI36
NG_008483.1:g.158127C>T
NG_008483.2:g.224943C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.1576C>T MANE Select ENSP00000356370.3:p.Arg526Ter
ENST00000638467.1:c.1576C>T ENSP00000491102.1:p.Arg526Ter
ENST00000681519.1:c.457C>T ENSP00000505267.1:p.Arg153Ter
ENST00000367397.1:c.-282C>T ENSP00000356367.1:n.-282C>T
ENST00000367399.6:c.1240C>T ENSP00000356369.2:p.Arg414Ter
ENST00000367400.7:c.1576C>T ENSP00000356370.3:p.Arg526Ter
ENST00000476483.1:n.536C>T
ENST00000484075.5:c.1576C>T ENSP00000433932.1:p.Arg526Ter
ENST00000535699.5:c.1369C>T ENSP00000438786.1:p.Arg457Ter
ENST00000538660.5:c.1576C>T ENSP00000438091.1:p.Arg526Ter
NM_001193640.1:c.1240C>T NP_001180569.1:p.Arg414Ter
NM_001257965.1:c.1369C>T NP_001244894.1:p.Arg457Ter
NM_001257966.1:c.1576C>T NP_001244895.1:p.Arg526Ter
NM_201253.2:c.1576C>T NP_957705.1:p.Arg526Ter
NR_047563.1:n.1785C>T
NR_047564.1:n.1785C>T
XM_011509365.1:c.1576C>T XP_011507667.1:p.Arg526Ter
XM_011509366.1:c.1576C>T XP_011507668.1:p.Arg526Ter
XM_011509367.1:c.1576C>T XP_011507669.1:p.Arg526Ter
XM_011509368.1:c.994C>T XP_011507670.1:p.Arg332Ter
XM_011509369.1:c.19C>T XP_011507671.1:p.Arg7Ter
XM_011509365.2:c.1576C>T XP_011507667.1:p.Arg526Ter
XM_011509369.2:c.19C>T XP_011507671.1:p.Arg7Ter
XM_017000851.1:c.733C>T XP_016856340.1:p.Arg245Ter
XM_017000852.1:c.1576C>T XP_016856341.1:p.Arg526Ter
NM_201253.3:c.1576C>T MANE Select NP_957705.1:p.Arg526Ter
NM_001193640.2:c.1240C>T NP_001180569.1:p.Arg414Ter
NM_001257965.2:c.1369C>T NP_001244894.1:p.Arg457Ter
NR_047563.2:n.1737C>T
NR_047564.2:n.1737C>T
NM_001257966.2:c.1576C>T NP_001244895.1:p.Arg526Ter