Canonical Allele Identifier: CA228030
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99893
dbSNP Id: rs62636274

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197434937G>T , CM000663.2:g.197434937G>T GRCh38
NC_000001.10:g.197404067G>T , CM000663.1:g.197404067G>T GRCh37
NC_000001.9:g.195670690G>T NCBI36
NG_008483.1:g.171660G>T
NG_008483.2:g.238476G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.3074G>T MANE Select ENSP00000356370.3:p.Ser1025Ile
ENST00000638467.1:c.3074G>T ENSP00000491102.1:p.Ser1025Ile
ENST00000681519.1:c.1955G>T ENSP00000505267.1:p.Ser652Ile
ENST00000367397.1:c.1217G>T ENSP00000356367.1:p.Ser406Ile
ENST00000367399.6:c.2738G>T ENSP00000356369.2:p.Ser913Ile
ENST00000367400.7:c.3074G>T ENSP00000356370.3:p.Ser1025Ile
ENST00000484075.5:c.3074G>T ENSP00000433932.1:p.Ser1025Ile
ENST00000535699.5:c.3002G>T ENSP00000438786.1:p.Ser1001Ile
ENST00000538660.5:c.2129-663G>T ENSP00000438091.1:n.2129-663G>T
NM_001193640.1:c.2738G>T NP_001180569.1:p.Ser913Ile
NM_001257965.1:c.3002G>T NP_001244894.1:p.Ser1001Ile
NM_001257966.1:c.2129-663G>T NP_001244895.1:n.2129-663G>T
NM_201253.2:c.3074G>T NP_957705.1:p.Ser1025Ile
NR_047563.1:n.3075G>T
NR_047564.1:n.3283G>T
XM_011509365.1:c.3074G>T XP_011507667.1:p.Ser1025Ile
XM_011509366.1:c.3074G>T XP_011507668.1:p.Ser1025Ile
XM_011509367.1:c.3074G>T XP_011507669.1:p.Ser1025Ile
XM_011509368.1:c.2492G>T XP_011507670.1:p.Ser831Ile
XM_011509369.1:c.1517G>T XP_011507671.1:p.Ser506Ile
XM_011509365.2:c.3074G>T XP_011507667.1:p.Ser1025Ile
XM_011509369.2:c.1517G>T XP_011507671.1:p.Ser506Ile
XM_017000851.1:c.2231G>T XP_016856340.1:p.Ser744Ile
XM_017000852.1:c.3209G>T XP_016856341.1:p.Ser1070Ile
NM_201253.3:c.3074G>T MANE Select NP_957705.1:p.Ser1025Ile
NM_001193640.2:c.2738G>T NP_001180569.1:p.Ser913Ile
NM_001257965.2:c.3002G>T NP_001244894.1:p.Ser1001Ile
NR_047563.2:n.3027G>T
NR_047564.2:n.3235G>T
NM_001257966.2:c.2129-663G>T NP_001244895.1:n.2129-663G>T