Canonical Allele Identifier: CA228041
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5737
dbSNP Id: rs62636291

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197435404T>C , CM000663.2:g.197435404T>C GRCh38
NC_000001.10:g.197404534T>C , CM000663.1:g.197404534T>C GRCh37
NC_000001.9:g.195671157T>C NCBI36
NG_008483.1:g.172127T>C
NG_008483.2:g.238943T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.3541T>C MANE Select ENSP00000356370.3:p.Cys1181Arg
ENST00000638467.1:c.3541T>C ENSP00000491102.1:p.Cys1181Arg
ENST00000681519.1:c.2422T>C ENSP00000505267.1:p.Cys808Arg
ENST00000367397.1:c.1684T>C ENSP00000356367.1:p.Cys562Arg
ENST00000367399.6:c.3205T>C ENSP00000356369.2:p.Cys1069Arg
ENST00000367400.7:c.3541T>C ENSP00000356370.3:p.Cys1181Arg
ENST00000484075.5:c.3541T>C ENSP00000433932.1:p.Cys1181Arg
ENST00000535699.5:c.3469T>C ENSP00000438786.1:p.Cys1157Arg
ENST00000538660.5:c.2129-196T>C ENSP00000438091.1:n.2129-196T>C
NM_001193640.1:c.3205T>C NP_001180569.1:p.Cys1069Arg
NM_001257965.1:c.3469T>C NP_001244894.1:p.Cys1157Arg
NM_001257966.1:c.2129-196T>C NP_001244895.1:n.2129-196T>C
NM_201253.2:c.3541T>C NP_957705.1:p.Cys1181Arg
NR_047563.1:n.3542T>C
NR_047564.1:n.3750T>C
XM_011509365.1:c.3541T>C XP_011507667.1:p.Cys1181Arg
XM_011509366.1:c.3541T>C XP_011507668.1:p.Cys1181Arg
XM_011509367.1:c.3541T>C XP_011507669.1:p.Cys1181Arg
XM_011509368.1:c.2959T>C XP_011507670.1:p.Cys987Arg
XM_011509369.1:c.1984T>C XP_011507671.1:p.Cys662Arg
XM_011509365.2:c.3541T>C XP_011507667.1:p.Cys1181Arg
XM_011509369.2:c.1984T>C XP_011507671.1:p.Cys662Arg
XM_017000851.1:c.2698T>C XP_016856340.1:p.Cys900Arg
XM_017000852.1:c.3676T>C XP_016856341.1:p.Cys1226Arg
NM_201253.3:c.3541T>C MANE Select NP_957705.1:p.Cys1181Arg
NM_001193640.2:c.3205T>C NP_001180569.1:p.Cys1069Arg
NM_001257965.2:c.3469T>C NP_001244894.1:p.Cys1157Arg
NR_047563.2:n.3494T>C
NR_047564.2:n.3702T>C
NM_001257966.2:c.2129-196T>C NP_001244895.1:n.2129-196T>C