Canonical Allele Identifier: CA422677485

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446829T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477699T>A , CM000663.2:g.197477699T>A	GRCh38
NC_000001.10:g.197446829T>A , CM000663.1:g.197446829T>A	GRCh37
NC_000001.9:g.195713452T>A	NCBI36
NG_008483.1:g.214422T>A
NG_008483.2:g.281238T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4041T>A MANE Select	ENSP00000356370.3:p.Thr1347=
ENST00000367399.6:c.3705T>A	ENSP00000356369.2:p.Thr1235=
ENST00000367400.7:c.4041T>A	ENSP00000356370.3:p.Thr1347=
ENST00000448952.1:c.275T>A	ENSP00000395407.1:n.275T>A
ENST00000484075.5:c.*152T>A	ENSP00000433932.1:n.*152T>A
ENST00000535699.5:c.3969T>A	ENSP00000438786.1:p.Thr1323=
ENST00000538660.5:c.2433T>A	ENSP00000438091.1:p.Thr811=
NM_001193640.1:c.3705T>A	NP_001180569.1:p.Thr1235=
NM_001257965.1:c.3969T>A	NP_001244894.1:p.Thr1323=
NM_001257966.1:c.2433T>A	NP_001244895.1:p.Thr811=
NM_201253.2:c.4041T>A	NP_957705.1:p.Thr1347=
NR_047563.1:n.4042T>A
NR_047564.1:n.4492T>A
XM_011509366.1:c.*146T>A	XP_011507668.1:n.*146T>A
XM_011509367.1:c.*20T>A	XP_011507669.1:n.*20T>A
XM_011509368.1:c.3459T>A	XP_011507670.1:p.Thr1153=
XM_011509369.1:c.2484T>A	XP_011507671.1:p.Thr828=
XM_011509369.2:c.2484T>A	XP_011507671.1:p.Thr828=
XM_017000851.1:c.3198T>A	XP_016856340.1:p.Thr1066=
XM_017000852.1:c.4176T>A	XP_016856341.1:p.Thr1392=
NM_201253.3:c.4041T>A MANE Select	NP_957705.1:p.Thr1347=
NM_001193640.2:c.3705T>A	NP_001180569.1:p.Thr1235=
NM_001257965.2:c.3969T>A	NP_001244894.1:p.Thr1323=
NR_047563.2:n.3994T>A
NR_047564.2:n.4444T>A
NM_001257966.2:c.2433T>A	NP_001244895.1:p.Thr811=