Canonical Allele Identifier: CA344037110
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 522783
ClinVar RCV Id: RCV000625947
dbSNP Id: rs1355198242

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197427714T>C , CM000663.2:g.197427714T>C GRCh38
NC_000001.10:g.197396844T>C , CM000663.1:g.197396844T>C GRCh37
NC_000001.9:g.195663467T>C NCBI36
NG_008483.1:g.164437T>C
NG_008483.2:g.231253T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.2389T>C MANE Select ENSP00000356370.3:p.Ser797Pro
ENST00000638467.1:c.2389T>C ENSP00000491102.1:p.Ser797Pro
ENST00000681519.1:c.1270T>C ENSP00000505267.1:p.Ser424Pro
ENST00000367397.1:c.532T>C ENSP00000356367.1:p.Ser178Pro
ENST00000367399.6:c.2053T>C ENSP00000356369.2:p.Ser685Pro
ENST00000367400.7:c.2389T>C ENSP00000356370.3:p.Ser797Pro
ENST00000480086.2:n.290T>C
ENST00000484075.5:c.2389T>C ENSP00000433932.1:p.Ser797Pro
ENST00000535699.5:c.2182T>C ENSP00000438786.1:p.Ser728Pro
ENST00000538660.5:c.2128+5758T>C ENSP00000438091.1:n.2128+5758T>C
NM_001193640.1:c.2053T>C NP_001180569.1:p.Ser685Pro
NM_001257965.1:c.2182T>C NP_001244894.1:p.Ser728Pro
NM_001257966.1:c.2128+5758T>C NP_001244895.1:n.2128+5758T>C
NM_201253.2:c.2389T>C NP_957705.1:p.Ser797Pro
NR_047563.1:n.2390T>C
NR_047564.1:n.2598T>C
XM_011509365.1:c.2389T>C XP_011507667.1:p.Ser797Pro
XM_011509366.1:c.2389T>C XP_011507668.1:p.Ser797Pro
XM_011509367.1:c.2389T>C XP_011507669.1:p.Ser797Pro
XM_011509368.1:c.1807T>C XP_011507670.1:p.Ser603Pro
XM_011509369.1:c.832T>C XP_011507671.1:p.Ser278Pro
XM_011509365.2:c.2389T>C XP_011507667.1:p.Ser797Pro
XM_011509369.2:c.832T>C XP_011507671.1:p.Ser278Pro
XM_017000851.1:c.1546T>C XP_016856340.1:p.Ser516Pro
XM_017000852.1:c.2389T>C XP_016856341.1:p.Ser797Pro
NM_201253.3:c.2389T>C MANE Select NP_957705.1:p.Ser797Pro
NM_001193640.2:c.2053T>C NP_001180569.1:p.Ser685Pro
NM_001257965.2:c.2182T>C NP_001244894.1:p.Ser728Pro
NR_047563.2:n.2342T>C
NR_047564.2:n.2550T>C
NM_001257966.2:c.2128+5758T>C NP_001244895.1:n.2128+5758T>C