Canonical Allele Identifier: CA1312092

Gene: CRB1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427615C>G , CM000663.2:g.197427615C>G	GRCh38
NC_000001.10:g.197396745C>G , CM000663.1:g.197396745C>G	GRCh37
NC_000001.9:g.195663368C>G	NCBI36
NG_008483.1:g.164338C>G
NG_008483.2:g.231154C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2290C>G MANE Select	ENSP00000356370.3:p.Arg764Gly
ENST00000638467.1:c.2290C>G	ENSP00000491102.1:p.Arg764Gly
ENST00000681519.1:c.1171C>G	ENSP00000505267.1:p.Arg391Gly
ENST00000367397.1:c.433C>G	ENSP00000356367.1:p.Arg145Gly
ENST00000367399.6:c.1954C>G	ENSP00000356369.2:p.Arg652Gly
ENST00000367400.7:c.2290C>G	ENSP00000356370.3:p.Arg764Gly
ENST00000480086.2:n.191C>G
ENST00000484075.5:c.2290C>G	ENSP00000433932.1:p.Arg764Gly
ENST00000535699.5:c.2083C>G	ENSP00000438786.1:p.Arg695Gly
ENST00000538660.5:c.2128+5659C>G	ENSP00000438091.1:n.2128+5659C>G
NM_001193640.1:c.1954C>G	NP_001180569.1:p.Arg652Gly
NM_001257965.1:c.2083C>G	NP_001244894.1:p.Arg695Gly
NM_001257966.1:c.2128+5659C>G	NP_001244895.1:n.2128+5659C>G
NM_201253.2:c.2290C>G	NP_957705.1:p.Arg764Gly
NR_047563.1:n.2291C>G
NR_047564.1:n.2499C>G
XM_011509365.1:c.2290C>G	XP_011507667.1:p.Arg764Gly
XM_011509366.1:c.2290C>G	XP_011507668.1:p.Arg764Gly
XM_011509367.1:c.2290C>G	XP_011507669.1:p.Arg764Gly
XM_011509368.1:c.1708C>G	XP_011507670.1:p.Arg570Gly
XM_011509369.1:c.733C>G	XP_011507671.1:p.Arg245Gly
XM_011509365.2:c.2290C>G	XP_011507667.1:p.Arg764Gly
XM_011509369.2:c.733C>G	XP_011507671.1:p.Arg245Gly
XM_017000851.1:c.1447C>G	XP_016856340.1:p.Arg483Gly
XM_017000852.1:c.2290C>G	XP_016856341.1:p.Arg764Gly
NM_201253.3:c.2290C>G MANE Select	NP_957705.1:p.Arg764Gly
NM_001193640.2:c.1954C>G	NP_001180569.1:p.Arg652Gly
NM_001257965.2:c.2083C>G	NP_001244894.1:p.Arg695Gly
NR_047563.2:n.2243C>G
NR_047564.2:n.2451C>G
NM_001257966.2:c.2128+5659C>G	NP_001244895.1:n.2128+5659C>G