Canonical Allele Identifier: CA228036
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99897
dbSNP Id: rs62636276

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197435183T>C , CM000663.2:g.197435183T>C GRCh38
NC_000001.10:g.197404313T>C , CM000663.1:g.197404313T>C GRCh37
NC_000001.9:g.195670936T>C NCBI36
NG_008483.1:g.171906T>C
NG_008483.2:g.238722T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.3320T>C MANE Select ENSP00000356370.3:p.Leu1107Pro
ENST00000638467.1:c.3320T>C ENSP00000491102.1:p.Leu1107Pro
ENST00000681519.1:c.2201T>C ENSP00000505267.1:p.Leu734Pro
ENST00000367397.1:c.1463T>C ENSP00000356367.1:p.Leu488Pro
ENST00000367399.6:c.2984T>C ENSP00000356369.2:p.Leu995Pro
ENST00000367400.7:c.3320T>C ENSP00000356370.3:p.Leu1107Pro
ENST00000484075.5:c.3320T>C ENSP00000433932.1:p.Leu1107Pro
ENST00000535699.5:c.3248T>C ENSP00000438786.1:p.Leu1083Pro
ENST00000538660.5:c.2129-417T>C ENSP00000438091.1:n.2129-417T>C
NM_001193640.1:c.2984T>C NP_001180569.1:p.Leu995Pro
NM_001257965.1:c.3248T>C NP_001244894.1:p.Leu1083Pro
NM_001257966.1:c.2129-417T>C NP_001244895.1:n.2129-417T>C
NM_201253.2:c.3320T>C NP_957705.1:p.Leu1107Pro
NR_047563.1:n.3321T>C
NR_047564.1:n.3529T>C
XM_011509365.1:c.3320T>C XP_011507667.1:p.Leu1107Pro
XM_011509366.1:c.3320T>C XP_011507668.1:p.Leu1107Pro
XM_011509367.1:c.3320T>C XP_011507669.1:p.Leu1107Pro
XM_011509368.1:c.2738T>C XP_011507670.1:p.Leu913Pro
XM_011509369.1:c.1763T>C XP_011507671.1:p.Leu588Pro
XM_011509365.2:c.3320T>C XP_011507667.1:p.Leu1107Pro
XM_011509369.2:c.1763T>C XP_011507671.1:p.Leu588Pro
XM_017000851.1:c.2477T>C XP_016856340.1:p.Leu826Pro
XM_017000852.1:c.3455T>C XP_016856341.1:p.Leu1152Pro
NM_201253.3:c.3320T>C MANE Select NP_957705.1:p.Leu1107Pro
NM_001193640.2:c.2984T>C NP_001180569.1:p.Leu995Pro
NM_001257965.2:c.3248T>C NP_001244894.1:p.Leu1083Pro
NR_047563.2:n.3273T>C
NR_047564.2:n.3481T>C
NM_001257966.2:c.2129-417T>C NP_001244895.1:n.2129-417T>C