Canonical Allele Identifier: CA344037933

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197396971A>G (hg19) ; chr1:g.197427841A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427841A>G , CM000663.2:g.197427841A>G	GRCh38
NC_000001.10:g.197396971A>G , CM000663.1:g.197396971A>G	GRCh37
NC_000001.9:g.195663594A>G	NCBI36
NG_008483.1:g.164564A>G
NG_008483.2:g.231380A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2516A>G MANE Select	ENSP00000356370.3:p.Gln839Arg
ENST00000638467.1:c.2516A>G	ENSP00000491102.1:p.Gln839Arg
ENST00000681519.1:c.1397A>G	ENSP00000505267.1:p.Gln466Arg
ENST00000367397.1:c.659A>G	ENSP00000356367.1:p.Gln220Arg
ENST00000367399.6:c.2180A>G	ENSP00000356369.2:p.Gln727Arg
ENST00000367400.7:c.2516A>G	ENSP00000356370.3:p.Gln839Arg
ENST00000484075.5:c.2516A>G	ENSP00000433932.1:p.Gln839Arg
ENST00000535699.5:c.2309A>G	ENSP00000438786.1:p.Gln770Arg
ENST00000538660.5:c.2128+5885A>G	ENSP00000438091.1:n.2128+5885A>G
NM_001193640.1:c.2180A>G	NP_001180569.1:p.Gln727Arg
NM_001257965.1:c.2309A>G	NP_001244894.1:p.Gln770Arg
NM_001257966.1:c.2128+5885A>G	NP_001244895.1:n.2128+5885A>G
NM_201253.2:c.2516A>G	NP_957705.1:p.Gln839Arg
NR_047563.1:n.2517A>G
NR_047564.1:n.2725A>G
XM_011509365.1:c.2516A>G	XP_011507667.1:p.Gln839Arg
XM_011509366.1:c.2516A>G	XP_011507668.1:p.Gln839Arg
XM_011509367.1:c.2516A>G	XP_011507669.1:p.Gln839Arg
XM_011509368.1:c.1934A>G	XP_011507670.1:p.Gln645Arg
XM_011509369.1:c.959A>G	XP_011507671.1:p.Gln320Arg
XM_011509365.2:c.2516A>G	XP_011507667.1:p.Gln839Arg
XM_011509369.2:c.959A>G	XP_011507671.1:p.Gln320Arg
XM_017000851.1:c.1673A>G	XP_016856340.1:p.Gln558Arg
XM_017000852.1:c.2516A>G	XP_016856341.1:p.Gln839Arg
NM_201253.3:c.2516A>G MANE Select	NP_957705.1:p.Gln839Arg
NM_001193640.2:c.2180A>G	NP_001180569.1:p.Gln727Arg
NM_001257965.2:c.2309A>G	NP_001244894.1:p.Gln770Arg
NR_047563.2:n.2469A>G
NR_047564.2:n.2677A>G
NM_001257966.2:c.2128+5885A>G	NP_001244895.1:n.2128+5885A>G