Canonical Allele Identifier: CA422677469

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446820T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477690T>A , CM000663.2:g.197477690T>A	GRCh38
NC_000001.10:g.197446820T>A , CM000663.1:g.197446820T>A	GRCh37
NC_000001.9:g.195713443T>A	NCBI36
NG_008483.1:g.214413T>A
NG_008483.2:g.281229T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4032T>A MANE Select	ENSP00000356370.3:p.Ile1344=
ENST00000367399.6:c.3696T>A	ENSP00000356369.2:p.Ile1232=
ENST00000367400.7:c.4032T>A	ENSP00000356370.3:p.Ile1344=
ENST00000448952.1:c.266T>A	ENSP00000395407.1:n.266T>A
ENST00000484075.5:c.*143T>A	ENSP00000433932.1:n.*143T>A
ENST00000535699.5:c.3960T>A	ENSP00000438786.1:p.Ile1320=
ENST00000538660.5:c.2424T>A	ENSP00000438091.1:p.Ile808=
NM_001193640.1:c.3696T>A	NP_001180569.1:p.Ile1232=
NM_001257965.1:c.3960T>A	NP_001244894.1:p.Ile1320=
NM_001257966.1:c.2424T>A	NP_001244895.1:p.Ile808=
NM_201253.2:c.4032T>A	NP_957705.1:p.Ile1344=
NR_047563.1:n.4033T>A
NR_047564.1:n.4483T>A
XM_011509366.1:c.*137T>A	XP_011507668.1:n.*137T>A
XM_011509367.1:c.*11T>A	XP_011507669.1:n.*11T>A
XM_011509368.1:c.3450T>A	XP_011507670.1:p.Ile1150=
XM_011509369.1:c.2475T>A	XP_011507671.1:p.Ile825=
XM_011509369.2:c.2475T>A	XP_011507671.1:p.Ile825=
XM_017000851.1:c.3189T>A	XP_016856340.1:p.Ile1063=
XM_017000852.1:c.4167T>A	XP_016856341.1:p.Ile1389=
NM_201253.3:c.4032T>A MANE Select	NP_957705.1:p.Ile1344=
NM_001193640.2:c.3696T>A	NP_001180569.1:p.Ile1232=
NM_001257965.2:c.3960T>A	NP_001244894.1:p.Ile1320=
NR_047563.2:n.3985T>A
NR_047564.2:n.4435T>A
NM_001257966.2:c.2424T>A	NP_001244895.1:p.Ile808=