Canonical Allele Identifier: CA224389
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 96658
dbSNP Id: rs398124614

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197435074C>T , CM000663.2:g.197435074C>T GRCh38
NC_000001.10:g.197404204C>T , CM000663.1:g.197404204C>T GRCh37
NC_000001.9:g.195670827C>T NCBI36
NG_008483.1:g.171797C>T
NG_008483.2:g.238613C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.3211C>T MANE Select ENSP00000356370.3:p.Leu1071Phe
ENST00000638467.1:c.3211C>T ENSP00000491102.1:p.Leu1071Phe
ENST00000681519.1:c.2092C>T ENSP00000505267.1:p.Leu698Phe
ENST00000367397.1:c.1354C>T ENSP00000356367.1:p.Leu452Phe
ENST00000367399.6:c.2875C>T ENSP00000356369.2:p.Leu959Phe
ENST00000367400.7:c.3211C>T ENSP00000356370.3:p.Leu1071Phe
ENST00000484075.5:c.3211C>T ENSP00000433932.1:p.Leu1071Phe
ENST00000535699.5:c.3139C>T ENSP00000438786.1:p.Leu1047Phe
ENST00000538660.5:c.2129-526C>T ENSP00000438091.1:n.2129-526C>T
NM_001193640.1:c.2875C>T NP_001180569.1:p.Leu959Phe
NM_001257965.1:c.3139C>T NP_001244894.1:p.Leu1047Phe
NM_001257966.1:c.2129-526C>T NP_001244895.1:n.2129-526C>T
NM_201253.2:c.3211C>T NP_957705.1:p.Leu1071Phe
NR_047563.1:n.3212C>T
NR_047564.1:n.3420C>T
XM_011509365.1:c.3211C>T XP_011507667.1:p.Leu1071Phe
XM_011509366.1:c.3211C>T XP_011507668.1:p.Leu1071Phe
XM_011509367.1:c.3211C>T XP_011507669.1:p.Leu1071Phe
XM_011509368.1:c.2629C>T XP_011507670.1:p.Leu877Phe
XM_011509369.1:c.1654C>T XP_011507671.1:p.Leu552Phe
XM_011509365.2:c.3211C>T XP_011507667.1:p.Leu1071Phe
XM_011509369.2:c.1654C>T XP_011507671.1:p.Leu552Phe
XM_017000851.1:c.2368C>T XP_016856340.1:p.Leu790Phe
XM_017000852.1:c.3346C>T XP_016856341.1:p.Leu1116Phe
NM_201253.3:c.3211C>T MANE Select NP_957705.1:p.Leu1071Phe
NM_001193640.2:c.2875C>T NP_001180569.1:p.Leu959Phe
NM_001257965.2:c.3139C>T NP_001244894.1:p.Leu1047Phe
NR_047563.2:n.3164C>T
NR_047564.2:n.3372C>T
NM_001257966.2:c.2129-526C>T NP_001244895.1:n.2129-526C>T