Canonical Allele Identifier: CA344037721
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 993404
ClinVar RCV Id: RCV001812307
dbSNP Id: rs1664670946

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197427811T>A , CM000663.2:g.197427811T>A GRCh38
NC_000001.10:g.197396941T>A , CM000663.1:g.197396941T>A GRCh37
NC_000001.9:g.195663564T>A NCBI36
NG_008483.1:g.164534T>A
NG_008483.2:g.231350T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.2486T>A MANE Select ENSP00000356370.3:p.Val829Asp
ENST00000638467.1:c.2486T>A ENSP00000491102.1:p.Val829Asp
ENST00000681519.1:c.1367T>A ENSP00000505267.1:p.Val456Asp
ENST00000367397.1:c.629T>A ENSP00000356367.1:p.Val210Asp
ENST00000367399.6:c.2150T>A ENSP00000356369.2:p.Val717Asp
ENST00000367400.7:c.2486T>A ENSP00000356370.3:p.Val829Asp
ENST00000480086.2:n.387T>A
ENST00000484075.5:c.2486T>A ENSP00000433932.1:p.Val829Asp
ENST00000535699.5:c.2279T>A ENSP00000438786.1:p.Val760Asp
ENST00000538660.5:c.2128+5855T>A ENSP00000438091.1:n.2128+5855T>A
NM_001193640.1:c.2150T>A NP_001180569.1:p.Val717Asp
NM_001257965.1:c.2279T>A NP_001244894.1:p.Val760Asp
NM_001257966.1:c.2128+5855T>A NP_001244895.1:n.2128+5855T>A
NM_201253.2:c.2486T>A NP_957705.1:p.Val829Asp
NR_047563.1:n.2487T>A
NR_047564.1:n.2695T>A
XM_011509365.1:c.2486T>A XP_011507667.1:p.Val829Asp
XM_011509366.1:c.2486T>A XP_011507668.1:p.Val829Asp
XM_011509367.1:c.2486T>A XP_011507669.1:p.Val829Asp
XM_011509368.1:c.1904T>A XP_011507670.1:p.Val635Asp
XM_011509369.1:c.929T>A XP_011507671.1:p.Val310Asp
XM_011509365.2:c.2486T>A XP_011507667.1:p.Val829Asp
XM_011509369.2:c.929T>A XP_011507671.1:p.Val310Asp
XM_017000851.1:c.1643T>A XP_016856340.1:p.Val548Asp
XM_017000852.1:c.2486T>A XP_016856341.1:p.Val829Asp
NM_201253.3:c.2486T>A MANE Select NP_957705.1:p.Val829Asp
NM_001193640.2:c.2150T>A NP_001180569.1:p.Val717Asp
NM_001257965.2:c.2279T>A NP_001244894.1:p.Val760Asp
NR_047563.2:n.2439T>A
NR_047564.2:n.2647T>A
NM_001257966.2:c.2128+5855T>A NP_001244895.1:n.2128+5855T>A