Canonical Allele Identifier: CA10581633
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 236476
ClinVar RCV Id: RCV000225605
dbSNP Id: rs878853369
MyVariant Identifiers: chr1:g.197446947G>T (hg19) chr1:g.197477817G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197477817G>T , CM000663.2:g.197477817G>T GRCh38
NC_000001.10:g.197446947G>T , CM000663.1:g.197446947G>T GRCh37
NC_000001.9:g.195713570G>T NCBI36
NG_008483.1:g.214540G>T
NG_008483.2:g.281356G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367400.8:c.4159G>T MANE Select ENSP00000356370.3:p.Glu1387Ter
ENST00000367399.6:c.3823G>T ENSP00000356369.2:p.Glu1275Ter
ENST00000367400.7:c.4159G>T ENSP00000356370.3:p.Glu1387Ter
ENST00000448952.1:c.393G>T ENSP00000395407.1:n.393G>T
ENST00000484075.5:c.*270G>T ENSP00000433932.1:n.*270G>T
ENST00000535699.5:c.4087G>T ENSP00000438786.1:p.Glu1363Ter
ENST00000538660.5:c.2551G>T ENSP00000438091.1:p.Glu851Ter
NM_001193640.1:c.3823G>T NP_001180569.1:p.Glu1275Ter
NM_001257965.1:c.4087G>T NP_001244894.1:p.Glu1363Ter
NM_001257966.1:c.2551G>T NP_001244895.1:p.Glu851Ter
NM_201253.2:c.4159G>T NP_957705.1:p.Glu1387Ter
NR_047563.1:n.4160G>T
NR_047564.1:n.4610G>T
XM_011509366.1:c.*264G>T XP_011507668.1:n.*264G>T
XM_011509367.1:c.*138G>T XP_011507669.1:n.*138G>T
XM_011509368.1:c.3577G>T XP_011507670.1:p.Glu1193Ter
XM_011509369.1:c.2602G>T XP_011507671.1:p.Glu868Ter
XM_011509369.2:c.2602G>T XP_011507671.1:p.Glu868Ter
XM_017000851.1:c.3316G>T XP_016856340.1:p.Glu1106Ter
XM_017000852.1:c.4294G>T XP_016856341.1:p.Glu1432Ter
NM_201253.3:c.4159G>T MANE Select NP_957705.1:p.Glu1387Ter
NM_001193640.2:c.3823G>T NP_001180569.1:p.Glu1275Ter
NM_001257965.2:c.4087G>T NP_001244894.1:p.Glu1363Ter
NR_047563.2:n.4112G>T
NR_047564.2:n.4562G>T
NM_001257966.2:c.2551G>T NP_001244895.1:p.Glu851Ter
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