Canonical Allele Identifier: CA117707
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5734
dbSNP Id: rs62635659

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197435162T>G , CM000663.2:g.197435162T>G GRCh38
NC_000001.10:g.197404292T>G , CM000663.1:g.197404292T>G GRCh37
NC_000001.9:g.195670915T>G NCBI36
NG_008483.1:g.171885T>G
NG_008483.2:g.238701T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000367400.8:c.3299T>G MANE Select ENSP00000356370.3:p.Ile1100Arg
ENST00000638467.1:c.3299T>G ENSP00000491102.1:p.Ile1100Arg
ENST00000681519.1:c.2180T>G ENSP00000505267.1:p.Ile727Arg
ENST00000367397.1:c.1442T>G ENSP00000356367.1:p.Ile481Arg
ENST00000367399.6:c.2963T>G ENSP00000356369.2:p.Ile988Arg
ENST00000367400.7:c.3299T>G ENSP00000356370.3:p.Ile1100Arg
ENST00000484075.5:c.3299T>G ENSP00000433932.1:p.Ile1100Arg
ENST00000535699.5:c.3227T>G ENSP00000438786.1:p.Ile1076Arg
ENST00000538660.5:c.2129-438T>G ENSP00000438091.1:n.2129-438T>G
NM_001193640.1:c.2963T>G NP_001180569.1:p.Ile988Arg
NM_001257965.1:c.3227T>G NP_001244894.1:p.Ile1076Arg
NM_001257966.1:c.2129-438T>G NP_001244895.1:n.2129-438T>G
NM_201253.2:c.3299T>G NP_957705.1:p.Ile1100Arg
NR_047563.1:n.3300T>G
NR_047564.1:n.3508T>G
XM_011509365.1:c.3299T>G XP_011507667.1:p.Ile1100Arg
XM_011509366.1:c.3299T>G XP_011507668.1:p.Ile1100Arg
XM_011509367.1:c.3299T>G XP_011507669.1:p.Ile1100Arg
XM_011509368.1:c.2717T>G XP_011507670.1:p.Ile906Arg
XM_011509369.1:c.1742T>G XP_011507671.1:p.Ile581Arg
XM_011509365.2:c.3299T>G XP_011507667.1:p.Ile1100Arg
XM_011509369.2:c.1742T>G XP_011507671.1:p.Ile581Arg
XM_017000851.1:c.2456T>G XP_016856340.1:p.Ile819Arg
XM_017000852.1:c.3434T>G XP_016856341.1:p.Ile1145Arg
NM_201253.3:c.3299T>G MANE Select NP_957705.1:p.Ile1100Arg
NM_001193640.2:c.2963T>G NP_001180569.1:p.Ile988Arg
NM_001257965.2:c.3227T>G NP_001244894.1:p.Ile1076Arg
NR_047563.2:n.3252T>G
NR_047564.2:n.3460T>G
NM_001257966.2:c.2129-438T>G NP_001244895.1:n.2129-438T>G