Canonical Allele Identifier: CA344037556
Gene: CRB1 HGNC NCBI

Linked Data

dbSNP Id: rs1355298140

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197427792A>C , CM000663.2:g.197427792A>C GRCh38
NC_000001.10:g.197396922A>C , CM000663.1:g.197396922A>C GRCh37
NC_000001.9:g.195663545A>C NCBI36
NG_008483.1:g.164515A>C
NG_008483.2:g.231331A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.2467A>C MANE Select ENSP00000356370.3:p.Lys823Gln
ENST00000638467.1:c.2467A>C ENSP00000491102.1:p.Lys823Gln
ENST00000681519.1:c.1348A>C ENSP00000505267.1:p.Lys450Gln
ENST00000367397.1:c.610A>C ENSP00000356367.1:p.Lys204Gln
ENST00000367399.6:c.2131A>C ENSP00000356369.2:p.Lys711Gln
ENST00000367400.7:c.2467A>C ENSP00000356370.3:p.Lys823Gln
ENST00000480086.2:n.368A>C
ENST00000484075.5:c.2467A>C ENSP00000433932.1:p.Lys823Gln
ENST00000535699.5:c.2260A>C ENSP00000438786.1:p.Lys754Gln
ENST00000538660.5:c.2128+5836A>C ENSP00000438091.1:n.2128+5836A>C
NM_001193640.1:c.2131A>C NP_001180569.1:p.Lys711Gln
NM_001257965.1:c.2260A>C NP_001244894.1:p.Lys754Gln
NM_001257966.1:c.2128+5836A>C NP_001244895.1:n.2128+5836A>C
NM_201253.2:c.2467A>C NP_957705.1:p.Lys823Gln
NR_047563.1:n.2468A>C
NR_047564.1:n.2676A>C
XM_011509365.1:c.2467A>C XP_011507667.1:p.Lys823Gln
XM_011509366.1:c.2467A>C XP_011507668.1:p.Lys823Gln
XM_011509367.1:c.2467A>C XP_011507669.1:p.Lys823Gln
XM_011509368.1:c.1885A>C XP_011507670.1:p.Lys629Gln
XM_011509369.1:c.910A>C XP_011507671.1:p.Lys304Gln
XM_011509365.2:c.2467A>C XP_011507667.1:p.Lys823Gln
XM_011509369.2:c.910A>C XP_011507671.1:p.Lys304Gln
XM_017000851.1:c.1624A>C XP_016856340.1:p.Lys542Gln
XM_017000852.1:c.2467A>C XP_016856341.1:p.Lys823Gln
NM_201253.3:c.2467A>C MANE Select NP_957705.1:p.Lys823Gln
NM_001193640.2:c.2131A>C NP_001180569.1:p.Lys711Gln
NM_001257965.2:c.2260A>C NP_001244894.1:p.Lys754Gln
NR_047563.2:n.2420A>C
NR_047564.2:n.2628A>C
NM_001257966.2:c.2128+5836A>C NP_001244895.1:n.2128+5836A>C