Canonical Allele Identifier: CA344038282

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197397016A>G (hg19) ; chr1:g.197427886A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427886A>G , CM000663.2:g.197427886A>G	GRCh38
NC_000001.10:g.197397016A>G , CM000663.1:g.197397016A>G	GRCh37
NC_000001.9:g.195663639A>G	NCBI36
NG_008483.1:g.164609A>G
NG_008483.2:g.231425A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2561A>G MANE Select	ENSP00000356370.3:p.Asp854Gly
ENST00000638467.1:c.2561A>G	ENSP00000491102.1:p.Asp854Gly
ENST00000681519.1:c.1442A>G	ENSP00000505267.1:p.Asp481Gly
ENST00000367397.1:c.704A>G	ENSP00000356367.1:p.Asp235Gly
ENST00000367399.6:c.2225A>G	ENSP00000356369.2:p.Asp742Gly
ENST00000367400.7:c.2561A>G	ENSP00000356370.3:p.Asp854Gly
ENST00000484075.5:c.2561A>G	ENSP00000433932.1:p.Asp854Gly
ENST00000535699.5:c.2354A>G	ENSP00000438786.1:p.Asp785Gly
ENST00000538660.5:c.2128+5930A>G	ENSP00000438091.1:n.2128+5930A>G
NM_001193640.1:c.2225A>G	NP_001180569.1:p.Asp742Gly
NM_001257965.1:c.2354A>G	NP_001244894.1:p.Asp785Gly
NM_001257966.1:c.2128+5930A>G	NP_001244895.1:n.2128+5930A>G
NM_201253.2:c.2561A>G	NP_957705.1:p.Asp854Gly
NR_047563.1:n.2562A>G
NR_047564.1:n.2770A>G
XM_011509365.1:c.2561A>G	XP_011507667.1:p.Asp854Gly
XM_011509366.1:c.2561A>G	XP_011507668.1:p.Asp854Gly
XM_011509367.1:c.2561A>G	XP_011507669.1:p.Asp854Gly
XM_011509368.1:c.1979A>G	XP_011507670.1:p.Asp660Gly
XM_011509369.1:c.1004A>G	XP_011507671.1:p.Asp335Gly
XM_011509365.2:c.2561A>G	XP_011507667.1:p.Asp854Gly
XM_011509369.2:c.1004A>G	XP_011507671.1:p.Asp335Gly
XM_017000851.1:c.1718A>G	XP_016856340.1:p.Asp573Gly
XM_017000852.1:c.2561A>G	XP_016856341.1:p.Asp854Gly
NM_201253.3:c.2561A>G MANE Select	NP_957705.1:p.Asp854Gly
NM_001193640.2:c.2225A>G	NP_001180569.1:p.Asp742Gly
NM_001257965.2:c.2354A>G	NP_001244894.1:p.Asp785Gly
NR_047563.2:n.2514A>G
NR_047564.2:n.2722A>G
NM_001257966.2:c.2128+5930A>G	NP_001244895.1:n.2128+5930A>G