Canonical Allele Identifier: CA422677491

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446832T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477702T>A , CM000663.2:g.197477702T>A	GRCh38
NC_000001.10:g.197446832T>A , CM000663.1:g.197446832T>A	GRCh37
NC_000001.9:g.195713455T>A	NCBI36
NG_008483.1:g.214425T>A
NG_008483.2:g.281241T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4044T>A MANE Select	ENSP00000356370.3:p.Ile1348=
ENST00000367399.6:c.3708T>A	ENSP00000356369.2:p.Ile1236=
ENST00000367400.7:c.4044T>A	ENSP00000356370.3:p.Ile1348=
ENST00000448952.1:c.278T>A	ENSP00000395407.1:n.278T>A
ENST00000484075.5:c.*155T>A	ENSP00000433932.1:n.*155T>A
ENST00000535699.5:c.3972T>A	ENSP00000438786.1:p.Ile1324=
ENST00000538660.5:c.2436T>A	ENSP00000438091.1:p.Ile812=
NM_001193640.1:c.3708T>A	NP_001180569.1:p.Ile1236=
NM_001257965.1:c.3972T>A	NP_001244894.1:p.Ile1324=
NM_001257966.1:c.2436T>A	NP_001244895.1:p.Ile812=
NM_201253.2:c.4044T>A	NP_957705.1:p.Ile1348=
NR_047563.1:n.4045T>A
NR_047564.1:n.4495T>A
XM_011509366.1:c.*149T>A	XP_011507668.1:n.*149T>A
XM_011509367.1:c.*23T>A	XP_011507669.1:n.*23T>A
XM_011509368.1:c.3462T>A	XP_011507670.1:p.Ile1154=
XM_011509369.1:c.2487T>A	XP_011507671.1:p.Ile829=
XM_011509369.2:c.2487T>A	XP_011507671.1:p.Ile829=
XM_017000851.1:c.3201T>A	XP_016856340.1:p.Ile1067=
XM_017000852.1:c.4179T>A	XP_016856341.1:p.Ile1393=
NM_201253.3:c.4044T>A MANE Select	NP_957705.1:p.Ile1348=
NM_001193640.2:c.3708T>A	NP_001180569.1:p.Ile1236=
NM_001257965.2:c.3972T>A	NP_001244894.1:p.Ile1324=
NR_047563.2:n.3997T>A
NR_047564.2:n.4447T>A
NM_001257966.2:c.2436T>A	NP_001244895.1:p.Ile812=