Canonical Allele Identifier: CA1218062999
Gene: CRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197421084A= , CM000663.2:g.197421084A= GRCh38
NC_000001.10:g.197390214A= , CM000663.1:g.197390214A= GRCh37
NC_000001.9:g.195656837A= NCBI36
NG_008483.1:g.157807A=
NG_008483.2:g.224623A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.1256A= MANE Select ENSP00000356370.3:p.Tyr419=
ENST00000638467.1:c.1256A= ENSP00000491102.1:p.Tyr419=
ENST00000681519.1:c.137A= ENSP00000505267.1:p.Tyr46=
ENST00000367397.1:c.-602A= ENSP00000356367.1:n.-602A=
ENST00000367399.6:c.920A= ENSP00000356369.2:p.Tyr307=
ENST00000367400.7:c.1256A= ENSP00000356370.3:p.Tyr419=
ENST00000476483.1:n.216A=
ENST00000484075.5:c.1256A= ENSP00000433932.1:p.Tyr419=
ENST00000535699.5:c.1049A= ENSP00000438786.1:p.Tyr350=
ENST00000538660.5:c.1256A= ENSP00000438091.1:p.Tyr419=
NM_001193640.1:c.920A= NP_001180569.1:p.Tyr307=
NM_001257965.1:c.1049A= NP_001244894.1:p.Tyr350=
NM_001257966.1:c.1256A= NP_001244895.1:p.Tyr419=
NM_201253.2:c.1256A= NP_957705.1:p.Tyr419=
NR_047563.1:n.1465A=
NR_047564.1:n.1465A=
XM_011509365.1:c.1256A= XP_011507667.1:p.Tyr419=
XM_011509366.1:c.1256A= XP_011507668.1:p.Tyr419=
XM_011509367.1:c.1256A= XP_011507669.1:p.Tyr419=
XM_011509368.1:c.674A= XP_011507670.1:p.Tyr225=
XM_011509369.1:c.-302A= XP_011507671.1:n.-302A=
XM_011509365.2:c.1256A= XP_011507667.1:p.Tyr419=
XM_011509369.2:c.-302A= XP_011507671.1:n.-302A=
XM_017000851.1:c.413A= XP_016856340.1:p.Tyr138=
XM_017000852.1:c.1256A= XP_016856341.1:p.Tyr419=
NM_201253.3:c.1256A= MANE Select NP_957705.1:p.Tyr419=
NM_001193640.2:c.920A= NP_001180569.1:p.Tyr307=
NM_001257965.2:c.1049A= NP_001244894.1:p.Tyr350=
NR_047563.2:n.1417A=
NR_047564.2:n.1417A=
NM_001257966.2:c.1256A= NP_001244895.1:p.Tyr419=