Canonical Allele Identifier: CA344036953

Gene: CRB1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427639C>G , CM000663.2:g.197427639C>G	GRCh38
NC_000001.10:g.197396769C>G , CM000663.1:g.197396769C>G	GRCh37
NC_000001.9:g.195663392C>G	NCBI36
NG_008483.1:g.164362C>G
NG_008483.2:g.231178C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2314C>G MANE Select	ENSP00000356370.3:p.Leu772Val
ENST00000638467.1:c.2314C>G	ENSP00000491102.1:p.Leu772Val
ENST00000681519.1:c.1195C>G	ENSP00000505267.1:p.Leu399Val
ENST00000367397.1:c.457C>G	ENSP00000356367.1:p.Leu153Val
ENST00000367399.6:c.1978C>G	ENSP00000356369.2:p.Leu660Val
ENST00000367400.7:c.2314C>G	ENSP00000356370.3:p.Leu772Val
ENST00000480086.2:n.215C>G
ENST00000484075.5:c.2314C>G	ENSP00000433932.1:p.Leu772Val
ENST00000535699.5:c.2107C>G	ENSP00000438786.1:p.Leu703Val
ENST00000538660.5:c.2128+5683C>G	ENSP00000438091.1:n.2128+5683C>G
NM_001193640.1:c.1978C>G	NP_001180569.1:p.Leu660Val
NM_001257965.1:c.2107C>G	NP_001244894.1:p.Leu703Val
NM_001257966.1:c.2128+5683C>G	NP_001244895.1:n.2128+5683C>G
NM_201253.2:c.2314C>G	NP_957705.1:p.Leu772Val
NR_047563.1:n.2315C>G
NR_047564.1:n.2523C>G
XM_011509365.1:c.2314C>G	XP_011507667.1:p.Leu772Val
XM_011509366.1:c.2314C>G	XP_011507668.1:p.Leu772Val
XM_011509367.1:c.2314C>G	XP_011507669.1:p.Leu772Val
XM_011509368.1:c.1732C>G	XP_011507670.1:p.Leu578Val
XM_011509369.1:c.757C>G	XP_011507671.1:p.Leu253Val
XM_011509365.2:c.2314C>G	XP_011507667.1:p.Leu772Val
XM_011509369.2:c.757C>G	XP_011507671.1:p.Leu253Val
XM_017000851.1:c.1471C>G	XP_016856340.1:p.Leu491Val
XM_017000852.1:c.2314C>G	XP_016856341.1:p.Leu772Val
NM_201253.3:c.2314C>G MANE Select	NP_957705.1:p.Leu772Val
NM_001193640.2:c.1978C>G	NP_001180569.1:p.Leu660Val
NM_001257965.2:c.2107C>G	NP_001244894.1:p.Leu703Val
NR_047563.2:n.2267C>G
NR_047564.2:n.2475C>G
NM_001257966.2:c.2128+5683C>G	NP_001244895.1:n.2128+5683C>G