Canonical Allele Identifier: CA10605094
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285386
dbSNP Id: rs115352681

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197421010C>A , CM000663.2:g.197421010C>A GRCh38
NC_000001.10:g.197390140C>A , CM000663.1:g.197390140C>A GRCh37
NC_000001.9:g.195656763C>A NCBI36
NG_008483.1:g.157733C>A
NG_008483.2:g.224549C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.1182C>A MANE Select ENSP00000356370.3:p.Cys394Ter
ENST00000638467.1:c.1182C>A ENSP00000491102.1:p.Cys394Ter
ENST00000681519.1:c.63C>A ENSP00000505267.1:p.Cys21Ter
ENST00000367397.1:c.-676C>A ENSP00000356367.1:n.-676C>A
ENST00000367399.6:c.846C>A ENSP00000356369.2:p.Cys282Ter
ENST00000367400.7:c.1182C>A ENSP00000356370.3:p.Cys394Ter
ENST00000476483.1:n.142C>A
ENST00000484075.5:c.1182C>A ENSP00000433932.1:p.Cys394Ter
ENST00000535699.5:c.975C>A ENSP00000438786.1:p.Cys325Ter
ENST00000538660.5:c.1182C>A ENSP00000438091.1:p.Cys394Ter
NM_001193640.1:c.846C>A NP_001180569.1:p.Cys282Ter
NM_001257965.1:c.975C>A NP_001244894.1:p.Cys325Ter
NM_001257966.1:c.1182C>A NP_001244895.1:p.Cys394Ter
NM_201253.2:c.1182C>A NP_957705.1:p.Cys394Ter
NR_047563.1:n.1391C>A
NR_047564.1:n.1391C>A
XM_011509365.1:c.1182C>A XP_011507667.1:p.Cys394Ter
XM_011509366.1:c.1182C>A XP_011507668.1:p.Cys394Ter
XM_011509367.1:c.1182C>A XP_011507669.1:p.Cys394Ter
XM_011509368.1:c.600C>A XP_011507670.1:p.Cys200Ter
XM_011509369.1:c.-376C>A XP_011507671.1:n.-376C>A
XM_011509365.2:c.1182C>A XP_011507667.1:p.Cys394Ter
XM_011509369.2:c.-376C>A XP_011507671.1:n.-376C>A
XM_017000851.1:c.339C>A XP_016856340.1:p.Cys113Ter
XM_017000852.1:c.1182C>A XP_016856341.1:p.Cys394Ter
NM_201253.3:c.1182C>A MANE Select NP_957705.1:p.Cys394Ter
NM_001193640.2:c.846C>A NP_001180569.1:p.Cys282Ter
NM_001257965.2:c.975C>A NP_001244894.1:p.Cys325Ter
NR_047563.2:n.1343C>A
NR_047564.2:n.1343C>A
NM_001257966.2:c.1182C>A NP_001244895.1:p.Cys394Ter