Canonical Allele Identifier: CA279025
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 216912
dbSNP Id: rs863224862

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197427552G>C , CM000663.2:g.197427552G>C GRCh38
NC_000001.10:g.197396682G>C , CM000663.1:g.197396682G>C GRCh37
NC_000001.9:g.195663305G>C NCBI36
NG_008483.1:g.164275G>C
NG_008483.2:g.231091G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.2227G>C MANE Select ENSP00000356370.3:p.Val743Leu
ENST00000638467.1:c.2227G>C ENSP00000491102.1:p.Val743Leu
ENST00000681519.1:c.1108G>C ENSP00000505267.1:p.Val370Leu
ENST00000367397.1:c.370G>C ENSP00000356367.1:p.Val124Leu
ENST00000367399.6:c.1891G>C ENSP00000356369.2:p.Val631Leu
ENST00000367400.7:c.2227G>C ENSP00000356370.3:p.Val743Leu
ENST00000480086.2:n.128G>C
ENST00000484075.5:c.2227G>C ENSP00000433932.1:p.Val743Leu
ENST00000535699.5:c.2020G>C ENSP00000438786.1:p.Val674Leu
ENST00000538660.5:c.2128+5596G>C ENSP00000438091.1:n.2128+5596G>C
NM_001193640.1:c.1891G>C NP_001180569.1:p.Val631Leu
NM_001257965.1:c.2020G>C NP_001244894.1:p.Val674Leu
NM_001257966.1:c.2128+5596G>C NP_001244895.1:n.2128+5596G>C
NM_201253.2:c.2227G>C NP_957705.1:p.Val743Leu
NR_047563.1:n.2228G>C
NR_047564.1:n.2436G>C
XM_011509365.1:c.2227G>C XP_011507667.1:p.Val743Leu
XM_011509366.1:c.2227G>C XP_011507668.1:p.Val743Leu
XM_011509367.1:c.2227G>C XP_011507669.1:p.Val743Leu
XM_011509368.1:c.1645G>C XP_011507670.1:p.Val549Leu
XM_011509369.1:c.670G>C XP_011507671.1:p.Val224Leu
XM_011509365.2:c.2227G>C XP_011507667.1:p.Val743Leu
XM_011509369.2:c.670G>C XP_011507671.1:p.Val224Leu
XM_017000851.1:c.1384G>C XP_016856340.1:p.Val462Leu
XM_017000852.1:c.2227G>C XP_016856341.1:p.Val743Leu
NM_201253.3:c.2227G>C MANE Select NP_957705.1:p.Val743Leu
NM_001193640.2:c.1891G>C NP_001180569.1:p.Val631Leu
NM_001257965.2:c.2020G>C NP_001244894.1:p.Val674Leu
NR_047563.2:n.2180G>C
NR_047564.2:n.2388G>C
NM_001257966.2:c.2128+5596G>C NP_001244895.1:n.2128+5596G>C