Canonical Allele Identifier: CA1312099
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2167176
ClinVar RCV Id: RCV003098970
dbSNP Id: rs369074728

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197427636A>G , CM000663.2:g.197427636A>G GRCh38
NC_000001.10:g.197396766A>G , CM000663.1:g.197396766A>G GRCh37
NC_000001.9:g.195663389A>G NCBI36
NG_008483.1:g.164359A>G
NG_008483.2:g.231175A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.2311A>G MANE Select ENSP00000356370.3:p.Arg771Gly
ENST00000638467.1:c.2311A>G ENSP00000491102.1:p.Arg771Gly
ENST00000681519.1:c.1192A>G ENSP00000505267.1:p.Arg398Gly
ENST00000367397.1:c.454A>G ENSP00000356367.1:p.Arg152Gly
ENST00000367399.6:c.1975A>G ENSP00000356369.2:p.Arg659Gly
ENST00000367400.7:c.2311A>G ENSP00000356370.3:p.Arg771Gly
ENST00000480086.2:n.212A>G
ENST00000484075.5:c.2311A>G ENSP00000433932.1:p.Arg771Gly
ENST00000535699.5:c.2104A>G ENSP00000438786.1:p.Arg702Gly
ENST00000538660.5:c.2128+5680A>G ENSP00000438091.1:n.2128+5680A>G
NM_001193640.1:c.1975A>G NP_001180569.1:p.Arg659Gly
NM_001257965.1:c.2104A>G NP_001244894.1:p.Arg702Gly
NM_001257966.1:c.2128+5680A>G NP_001244895.1:n.2128+5680A>G
NM_201253.2:c.2311A>G NP_957705.1:p.Arg771Gly
NR_047563.1:n.2312A>G
NR_047564.1:n.2520A>G
XM_011509365.1:c.2311A>G XP_011507667.1:p.Arg771Gly
XM_011509366.1:c.2311A>G XP_011507668.1:p.Arg771Gly
XM_011509367.1:c.2311A>G XP_011507669.1:p.Arg771Gly
XM_011509368.1:c.1729A>G XP_011507670.1:p.Arg577Gly
XM_011509369.1:c.754A>G XP_011507671.1:p.Arg252Gly
XM_011509365.2:c.2311A>G XP_011507667.1:p.Arg771Gly
XM_011509369.2:c.754A>G XP_011507671.1:p.Arg252Gly
XM_017000851.1:c.1468A>G XP_016856340.1:p.Arg490Gly
XM_017000852.1:c.2311A>G XP_016856341.1:p.Arg771Gly
NM_201253.3:c.2311A>G MANE Select NP_957705.1:p.Arg771Gly
NM_001193640.2:c.1975A>G NP_001180569.1:p.Arg659Gly
NM_001257965.2:c.2104A>G NP_001244894.1:p.Arg702Gly
NR_047563.2:n.2264A>G
NR_047564.2:n.2472A>G
NM_001257966.2:c.2128+5680A>G NP_001244895.1:n.2128+5680A>G