Canonical Allele Identifier: CA344032449
Gene: CRB1 HGNC NCBI

Linked Data

dbSNP Id: rs1664322968
COSMIC: COSM901761

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197421578G>A , CM000663.2:g.197421578G>A GRCh38
NC_000001.10:g.197390708G>A , CM000663.1:g.197390708G>A GRCh37
NC_000001.9:g.195657331G>A NCBI36
NG_008483.1:g.158301G>A
NG_008483.2:g.225117G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.1750G>A MANE Select ENSP00000356370.3:p.Asp584Asn
ENST00000638467.1:c.1750G>A ENSP00000491102.1:p.Asp584Asn
ENST00000681519.1:c.631G>A ENSP00000505267.1:p.Asp211Asn
ENST00000367397.1:c.-108G>A ENSP00000356367.1:n.-108G>A
ENST00000367399.6:c.1414G>A ENSP00000356369.2:p.Asp472Asn
ENST00000367400.7:c.1750G>A ENSP00000356370.3:p.Asp584Asn
ENST00000484075.5:c.1750G>A ENSP00000433932.1:p.Asp584Asn
ENST00000535699.5:c.1543G>A ENSP00000438786.1:p.Asp515Asn
ENST00000538660.5:c.1750G>A ENSP00000438091.1:p.Asp584Asn
NM_001193640.1:c.1414G>A NP_001180569.1:p.Asp472Asn
NM_001257965.1:c.1543G>A NP_001244894.1:p.Asp515Asn
NM_001257966.1:c.1750G>A NP_001244895.1:p.Asp584Asn
NM_201253.2:c.1750G>A NP_957705.1:p.Asp584Asn
NR_047563.1:n.1922+37G>A
NR_047564.1:n.1959G>A
XM_011509365.1:c.1750G>A XP_011507667.1:p.Asp584Asn
XM_011509366.1:c.1750G>A XP_011507668.1:p.Asp584Asn
XM_011509367.1:c.1750G>A XP_011507669.1:p.Asp584Asn
XM_011509368.1:c.1168G>A XP_011507670.1:p.Asp390Asn
XM_011509369.1:c.193G>A XP_011507671.1:p.Asp65Asn
XM_011509365.2:c.1750G>A XP_011507667.1:p.Asp584Asn
XM_011509369.2:c.193G>A XP_011507671.1:p.Asp65Asn
XM_017000851.1:c.907G>A XP_016856340.1:p.Asp303Asn
XM_017000852.1:c.1750G>A XP_016856341.1:p.Asp584Asn
NM_201253.3:c.1750G>A MANE Select NP_957705.1:p.Asp584Asn
NM_001193640.2:c.1414G>A NP_001180569.1:p.Asp472Asn
NM_001257965.2:c.1543G>A NP_001244894.1:p.Asp515Asn
NR_047563.2:n.1874+37G>A
NR_047564.2:n.1911G>A
NM_001257966.2:c.1750G>A NP_001244895.1:p.Asp584Asn