Canonical Allele Identifier: CA233863
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 166959
dbSNP Id: rs727503889

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197435029G>T , CM000663.2:g.197435029G>T GRCh38
NC_000001.10:g.197404159G>T , CM000663.1:g.197404159G>T GRCh37
NC_000001.9:g.195670782G>T NCBI36
NG_008483.1:g.171752G>T
NG_008483.2:g.238568G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.3166G>T MANE Select ENSP00000356370.3:p.Asp1056Tyr
ENST00000638467.1:c.3166G>T ENSP00000491102.1:p.Asp1056Tyr
ENST00000681519.1:c.2047G>T ENSP00000505267.1:p.Asp683Tyr
ENST00000367397.1:c.1309G>T ENSP00000356367.1:p.Asp437Tyr
ENST00000367399.6:c.2830G>T ENSP00000356369.2:p.Asp944Tyr
ENST00000367400.7:c.3166G>T ENSP00000356370.3:p.Asp1056Tyr
ENST00000484075.5:c.3166G>T ENSP00000433932.1:p.Asp1056Tyr
ENST00000535699.5:c.3094G>T ENSP00000438786.1:p.Asp1032Tyr
ENST00000538660.5:c.2129-571G>T ENSP00000438091.1:n.2129-571G>T
NM_001193640.1:c.2830G>T NP_001180569.1:p.Asp944Tyr
NM_001257965.1:c.3094G>T NP_001244894.1:p.Asp1032Tyr
NM_001257966.1:c.2129-571G>T NP_001244895.1:n.2129-571G>T
NM_201253.2:c.3166G>T NP_957705.1:p.Asp1056Tyr
NR_047563.1:n.3167G>T
NR_047564.1:n.3375G>T
XM_011509365.1:c.3166G>T XP_011507667.1:p.Asp1056Tyr
XM_011509366.1:c.3166G>T XP_011507668.1:p.Asp1056Tyr
XM_011509367.1:c.3166G>T XP_011507669.1:p.Asp1056Tyr
XM_011509368.1:c.2584G>T XP_011507670.1:p.Asp862Tyr
XM_011509369.1:c.1609G>T XP_011507671.1:p.Asp537Tyr
XM_011509365.2:c.3166G>T XP_011507667.1:p.Asp1056Tyr
XM_011509369.2:c.1609G>T XP_011507671.1:p.Asp537Tyr
XM_017000851.1:c.2323G>T XP_016856340.1:p.Asp775Tyr
XM_017000852.1:c.3301G>T XP_016856341.1:p.Asp1101Tyr
NM_201253.3:c.3166G>T MANE Select NP_957705.1:p.Asp1056Tyr
NM_001193640.2:c.2830G>T NP_001180569.1:p.Asp944Tyr
NM_001257965.2:c.3094G>T NP_001244894.1:p.Asp1032Tyr
NR_047563.2:n.3119G>T
NR_047564.2:n.3327G>T
NM_001257966.2:c.2129-571G>T NP_001244895.1:n.2129-571G>T