Canonical Allele Identifier: CA16621584
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424925
dbSNP Id: rs1064797128

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197434949T>A , CM000663.2:g.197434949T>A GRCh38
NC_000001.10:g.197404079T>A , CM000663.1:g.197404079T>A GRCh37
NC_000001.9:g.195670702T>A NCBI36
NG_008483.1:g.171672T>A
NG_008483.2:g.238488T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.3086T>A MANE Select ENSP00000356370.3:p.Val1029Glu
ENST00000638467.1:c.3086T>A ENSP00000491102.1:p.Val1029Glu
ENST00000681519.1:c.1967T>A ENSP00000505267.1:p.Val656Glu
ENST00000367397.1:c.1229T>A ENSP00000356367.1:p.Val410Glu
ENST00000367399.6:c.2750T>A ENSP00000356369.2:p.Val917Glu
ENST00000367400.7:c.3086T>A ENSP00000356370.3:p.Val1029Glu
ENST00000484075.5:c.3086T>A ENSP00000433932.1:p.Val1029Glu
ENST00000535699.5:c.3014T>A ENSP00000438786.1:p.Val1005Glu
ENST00000538660.5:c.2129-651T>A ENSP00000438091.1:n.2129-651T>A
NM_001193640.1:c.2750T>A NP_001180569.1:p.Val917Glu
NM_001257965.1:c.3014T>A NP_001244894.1:p.Val1005Glu
NM_001257966.1:c.2129-651T>A NP_001244895.1:n.2129-651T>A
NM_201253.2:c.3086T>A NP_957705.1:p.Val1029Glu
NR_047563.1:n.3087T>A
NR_047564.1:n.3295T>A
XM_011509365.1:c.3086T>A XP_011507667.1:p.Val1029Glu
XM_011509366.1:c.3086T>A XP_011507668.1:p.Val1029Glu
XM_011509367.1:c.3086T>A XP_011507669.1:p.Val1029Glu
XM_011509368.1:c.2504T>A XP_011507670.1:p.Val835Glu
XM_011509369.1:c.1529T>A XP_011507671.1:p.Val510Glu
XM_011509365.2:c.3086T>A XP_011507667.1:p.Val1029Glu
XM_011509369.2:c.1529T>A XP_011507671.1:p.Val510Glu
XM_017000851.1:c.2243T>A XP_016856340.1:p.Val748Glu
XM_017000852.1:c.3221T>A XP_016856341.1:p.Val1074Glu
NM_201253.3:c.3086T>A MANE Select NP_957705.1:p.Val1029Glu
NM_001193640.2:c.2750T>A NP_001180569.1:p.Val917Glu
NM_001257965.2:c.3014T>A NP_001244894.1:p.Val1005Glu
NR_047563.2:n.3039T>A
NR_047564.2:n.3247T>A
NM_001257966.2:c.2129-651T>A NP_001244895.1:n.2129-651T>A