Canonical Allele Identifier: CA1218066505
Gene: CRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197427943C= , CM000663.2:g.197427943C= GRCh38
NC_000001.10:g.197397073C= , CM000663.1:g.197397073C= GRCh37
NC_000001.9:g.195663696C= NCBI36
NG_008483.1:g.164666C=
NG_008483.2:g.231482C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.2618C= MANE Select ENSP00000356370.3:p.Ser873=
ENST00000638467.1:c.2618C= ENSP00000491102.1:p.Ser873=
ENST00000681519.1:c.1499C= ENSP00000505267.1:p.Ser500=
ENST00000367397.1:c.761C= ENSP00000356367.1:p.Ser254=
ENST00000367399.6:c.2282C= ENSP00000356369.2:p.Ser761=
ENST00000367400.7:c.2618C= ENSP00000356370.3:p.Ser873=
ENST00000484075.5:c.2618C= ENSP00000433932.1:p.Ser873=
ENST00000535699.5:c.2411C= ENSP00000438786.1:p.Ser804=
ENST00000538660.5:c.2128+5987C= ENSP00000438091.1:n.2128+5987C=
NM_001193640.1:c.2282C= NP_001180569.1:p.Ser761=
NM_001257965.1:c.2411C= NP_001244894.1:p.Ser804=
NM_001257966.1:c.2128+5987C= NP_001244895.1:n.2128+5987C=
NM_201253.2:c.2618C= NP_957705.1:p.Ser873=
NR_047563.1:n.2619C=
NR_047564.1:n.2827C=
XM_011509365.1:c.2618C= XP_011507667.1:p.Ser873=
XM_011509366.1:c.2618C= XP_011507668.1:p.Ser873=
XM_011509367.1:c.2618C= XP_011507669.1:p.Ser873=
XM_011509368.1:c.2036C= XP_011507670.1:p.Ser679=
XM_011509369.1:c.1061C= XP_011507671.1:p.Ser354=
XM_011509365.2:c.2618C= XP_011507667.1:p.Ser873=
XM_011509369.2:c.1061C= XP_011507671.1:p.Ser354=
XM_017000851.1:c.1775C= XP_016856340.1:p.Ser592=
XM_017000852.1:c.2618C= XP_016856341.1:p.Ser873=
NM_201253.3:c.2618C= MANE Select NP_957705.1:p.Ser873=
NM_001193640.2:c.2282C= NP_001180569.1:p.Ser761=
NM_001257965.2:c.2411C= NP_001244894.1:p.Ser804=
NR_047563.2:n.2571C=
NR_047564.2:n.2779C=
NM_001257966.2:c.2128+5987C= NP_001244895.1:n.2128+5987C=