Canonical Allele Identifier: CA1311659
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265083
dbSNP Id: rs764256655

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197328935G>T , CM000663.2:g.197328935G>T GRCh38
NC_000001.10:g.197298065G>T , CM000663.1:g.197298065G>T GRCh37
NC_000001.9:g.195564688G>T NCBI36
NG_008483.1:g.65658G>T
NG_008483.2:g.132474G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.584G>T MANE Select ENSP00000356370.3:p.Cys195Phe
ENST00000638467.1:c.584G>T ENSP00000491102.1:p.Cys195Phe
ENST00000367399.6:c.584G>T ENSP00000356369.2:p.Cys195Phe
ENST00000367400.7:c.584G>T ENSP00000356370.3:p.Cys195Phe
ENST00000475659.1:n.721G>T
ENST00000484075.5:c.584G>T ENSP00000433932.1:p.Cys195Phe
ENST00000535699.5:c.377G>T ENSP00000438786.1:p.Cys126Phe
ENST00000538660.5:c.584G>T ENSP00000438091.1:p.Cys195Phe
NM_001193640.1:c.584G>T NP_001180569.1:p.Cys195Phe
NM_001257965.1:c.377G>T NP_001244894.1:p.Cys126Phe
NM_001257966.1:c.584G>T NP_001244895.1:p.Cys195Phe
NM_201253.2:c.584G>T NP_957705.1:p.Cys195Phe
NR_047563.1:n.793G>T
NR_047564.1:n.793G>T
XM_011509365.1:c.584G>T XP_011507667.1:p.Cys195Phe
XM_011509366.1:c.584G>T XP_011507668.1:p.Cys195Phe
XM_011509367.1:c.584G>T XP_011507669.1:p.Cys195Phe
XM_011509368.1:c.71-15346G>T XP_011507670.1:n.71-15346G>T
XM_011509365.2:c.584G>T XP_011507667.1:p.Cys195Phe
XM_017000851.1:c.-120G>T XP_016856340.1:n.-120G>T
XM_017000852.1:c.584G>T XP_016856341.1:p.Cys195Phe
NM_201253.3:c.584G>T MANE Select NP_957705.1:p.Cys195Phe
NM_001193640.2:c.584G>T NP_001180569.1:p.Cys195Phe
NM_001257965.2:c.377G>T NP_001244894.1:p.Cys126Phe
NR_047563.2:n.745G>T
NR_047564.2:n.745G>T
NM_001257966.2:c.584G>T NP_001244895.1:p.Cys195Phe