Canonical Allele Identifier: CA344045114
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 444190
dbSNP Id: rs1553262957

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197434925T>C , CM000663.2:g.197434925T>C GRCh38
NC_000001.10:g.197404055T>C , CM000663.1:g.197404055T>C GRCh37
NC_000001.9:g.195670678T>C NCBI36
NG_008483.1:g.171648T>C
NG_008483.2:g.238464T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.3062T>C MANE Select ENSP00000356370.3:p.Leu1021Pro
ENST00000638467.1:c.3062T>C ENSP00000491102.1:p.Leu1021Pro
ENST00000681519.1:c.1943T>C ENSP00000505267.1:p.Leu648Pro
ENST00000367397.1:c.1205T>C ENSP00000356367.1:p.Leu402Pro
ENST00000367399.6:c.2726T>C ENSP00000356369.2:p.Leu909Pro
ENST00000367400.7:c.3062T>C ENSP00000356370.3:p.Leu1021Pro
ENST00000484075.5:c.3062T>C ENSP00000433932.1:p.Leu1021Pro
ENST00000535699.5:c.2990T>C ENSP00000438786.1:p.Leu997Pro
ENST00000538660.5:c.2129-675T>C ENSP00000438091.1:n.2129-675T>C
NM_001193640.1:c.2726T>C NP_001180569.1:p.Leu909Pro
NM_001257965.1:c.2990T>C NP_001244894.1:p.Leu997Pro
NM_001257966.1:c.2129-675T>C NP_001244895.1:n.2129-675T>C
NM_201253.2:c.3062T>C NP_957705.1:p.Leu1021Pro
NR_047563.1:n.3063T>C
NR_047564.1:n.3271T>C
XM_011509365.1:c.3062T>C XP_011507667.1:p.Leu1021Pro
XM_011509366.1:c.3062T>C XP_011507668.1:p.Leu1021Pro
XM_011509367.1:c.3062T>C XP_011507669.1:p.Leu1021Pro
XM_011509368.1:c.2480T>C XP_011507670.1:p.Leu827Pro
XM_011509369.1:c.1505T>C XP_011507671.1:p.Leu502Pro
XM_011509365.2:c.3062T>C XP_011507667.1:p.Leu1021Pro
XM_011509369.2:c.1505T>C XP_011507671.1:p.Leu502Pro
XM_017000851.1:c.2219T>C XP_016856340.1:p.Leu740Pro
XM_017000852.1:c.3197T>C XP_016856341.1:p.Leu1066Pro
NM_201253.3:c.3062T>C MANE Select NP_957705.1:p.Leu1021Pro
NM_001193640.2:c.2726T>C NP_001180569.1:p.Leu909Pro
NM_001257965.2:c.2990T>C NP_001244894.1:p.Leu997Pro
NR_047563.2:n.3015T>C
NR_047564.2:n.3223T>C
NM_001257966.2:c.2129-675T>C NP_001244895.1:n.2129-675T>C