Canonical Allele Identifier: CA1312142
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 846967
dbSNP Id: rs557930078

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197427888G>A , CM000663.2:g.197427888G>A GRCh38
NC_000001.10:g.197397018G>A , CM000663.1:g.197397018G>A GRCh37
NC_000001.9:g.195663641G>A NCBI36
NG_008483.1:g.164611G>A
NG_008483.2:g.231427G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.2563G>A MANE Select ENSP00000356370.3:p.Val855Ile
ENST00000638467.1:c.2563G>A ENSP00000491102.1:p.Val855Ile
ENST00000681519.1:c.1444G>A ENSP00000505267.1:p.Val482Ile
ENST00000367397.1:c.706G>A ENSP00000356367.1:p.Val236Ile
ENST00000367399.6:c.2227G>A ENSP00000356369.2:p.Val743Ile
ENST00000367400.7:c.2563G>A ENSP00000356370.3:p.Val855Ile
ENST00000484075.5:c.2563G>A ENSP00000433932.1:p.Val855Ile
ENST00000535699.5:c.2356G>A ENSP00000438786.1:p.Val786Ile
ENST00000538660.5:c.2128+5932G>A ENSP00000438091.1:n.2128+5932G>A
NM_001193640.1:c.2227G>A NP_001180569.1:p.Val743Ile
NM_001257965.1:c.2356G>A NP_001244894.1:p.Val786Ile
NM_001257966.1:c.2128+5932G>A NP_001244895.1:n.2128+5932G>A
NM_201253.2:c.2563G>A NP_957705.1:p.Val855Ile
NR_047563.1:n.2564G>A
NR_047564.1:n.2772G>A
XM_011509365.1:c.2563G>A XP_011507667.1:p.Val855Ile
XM_011509366.1:c.2563G>A XP_011507668.1:p.Val855Ile
XM_011509367.1:c.2563G>A XP_011507669.1:p.Val855Ile
XM_011509368.1:c.1981G>A XP_011507670.1:p.Val661Ile
XM_011509369.1:c.1006G>A XP_011507671.1:p.Val336Ile
XM_011509365.2:c.2563G>A XP_011507667.1:p.Val855Ile
XM_011509369.2:c.1006G>A XP_011507671.1:p.Val336Ile
XM_017000851.1:c.1720G>A XP_016856340.1:p.Val574Ile
XM_017000852.1:c.2563G>A XP_016856341.1:p.Val855Ile
NM_201253.3:c.2563G>A MANE Select NP_957705.1:p.Val855Ile
NM_001193640.2:c.2227G>A NP_001180569.1:p.Val743Ile
NM_001257965.2:c.2356G>A NP_001244894.1:p.Val786Ile
NR_047563.2:n.2516G>A
NR_047564.2:n.2724G>A
NM_001257966.2:c.2128+5932G>A NP_001244895.1:n.2128+5932G>A