Canonical Allele Identifier: CA1218066509
Gene: CRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197427949A= , CM000663.2:g.197427949A= GRCh38
NC_000001.10:g.197397079A= , CM000663.1:g.197397079A= GRCh37
NC_000001.9:g.195663702A= NCBI36
NG_008483.1:g.164672A=
NG_008483.2:g.231488A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.2624A= MANE Select ENSP00000356370.3:p.Asn875=
ENST00000638467.1:c.2624A= ENSP00000491102.1:p.Asn875=
ENST00000681519.1:c.1505A= ENSP00000505267.1:p.Asn502=
ENST00000367397.1:c.767A= ENSP00000356367.1:p.Asn256=
ENST00000367399.6:c.2288A= ENSP00000356369.2:p.Asn763=
ENST00000367400.7:c.2624A= ENSP00000356370.3:p.Asn875=
ENST00000484075.5:c.2624A= ENSP00000433932.1:p.Asn875=
ENST00000535699.5:c.2417A= ENSP00000438786.1:p.Asn806=
ENST00000538660.5:c.2128+5993A= ENSP00000438091.1:n.2128+5993A=
NM_001193640.1:c.2288A= NP_001180569.1:p.Asn763=
NM_001257965.1:c.2417A= NP_001244894.1:p.Asn806=
NM_001257966.1:c.2128+5993A= NP_001244895.1:n.2128+5993A=
NM_201253.2:c.2624A= NP_957705.1:p.Asn875=
NR_047563.1:n.2625A=
NR_047564.1:n.2833A=
XM_011509365.1:c.2624A= XP_011507667.1:p.Asn875=
XM_011509366.1:c.2624A= XP_011507668.1:p.Asn875=
XM_011509367.1:c.2624A= XP_011507669.1:p.Asn875=
XM_011509368.1:c.2042A= XP_011507670.1:p.Asn681=
XM_011509369.1:c.1067A= XP_011507671.1:p.Asn356=
XM_011509365.2:c.2624A= XP_011507667.1:p.Asn875=
XM_011509369.2:c.1067A= XP_011507671.1:p.Asn356=
XM_017000851.1:c.1781A= XP_016856340.1:p.Asn594=
XM_017000852.1:c.2624A= XP_016856341.1:p.Asn875=
NM_201253.3:c.2624A= MANE Select NP_957705.1:p.Asn875=
NM_001193640.2:c.2288A= NP_001180569.1:p.Asn763=
NM_001257965.2:c.2417A= NP_001244894.1:p.Asn806=
NR_047563.2:n.2577A=
NR_047564.2:n.2785A=
NM_001257966.2:c.2128+5993A= NP_001244895.1:n.2128+5993A=