Canonical Allele Identifier: CA1218087312
Gene: CRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197477922T= , CM000663.2:g.197477922T= GRCh38
NC_000001.10:g.197447052T= , CM000663.1:g.197447052T= GRCh37
NC_000001.9:g.195713675T= NCBI36
NG_008483.1:g.214645T=
NG_008483.2:g.281461T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.*43T= MANE Select ENSP00000356370.3:n.*43T=
ENST00000367400.7:c.*43T= ENSP00000356370.3:n.*43T=
ENST00000448952.1:c.498T= ENSP00000395407.1:n.498T=
ENST00000484075.5:c.*375T= ENSP00000433932.1:n.*375T=
ENST00000535699.5:c.*43T= ENSP00000438786.1:n.*43T=
ENST00000538660.5:c.*43T= ENSP00000438091.1:n.*43T=
NM_001193640.1:c.*43T= NP_001180569.1:n.*43T=
NM_001257965.1:c.*43T= NP_001244894.1:n.*43T=
NM_001257966.1:c.*43T= NP_001244895.1:n.*43T=
NM_201253.2:c.*43T= NP_957705.1:n.*43T=
NR_047563.1:n.4265T=
NR_047564.1:n.4715T=
XM_011509366.1:c.*369T= XP_011507668.1:n.*369T=
XM_011509367.1:c.*243T= XP_011507669.1:n.*243T=
XM_011509368.1:c.*43T= XP_011507670.1:n.*43T=
XM_011509369.1:c.*43T= XP_011507671.1:n.*43T=
XM_011509369.2:c.*43T= XP_011507671.1:n.*43T=
XM_017000851.1:c.*43T= XP_016856340.1:n.*43T=
XM_017000852.1:c.*43T= XP_016856341.1:n.*43T=
NM_201253.3:c.*43T= MANE Select NP_957705.1:n.*43T=
NM_001193640.2:c.*43T= NP_001180569.1:n.*43T=
NM_001257965.2:c.*43T= NP_001244894.1:n.*43T=
NR_047563.2:n.4217T=
NR_047564.2:n.4667T=
NM_001257966.2:c.*43T= NP_001244895.1:n.*43T=