Canonical Allele Identifier: CA422677497

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446838A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477708A>T , CM000663.2:g.197477708A>T	GRCh38
NC_000001.10:g.197446838A>T , CM000663.1:g.197446838A>T	GRCh37
NC_000001.9:g.195713461A>T	NCBI36
NG_008483.1:g.214431A>T
NG_008483.2:g.281247A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4050A>T MANE Select	ENSP00000356370.3:p.Ser1350=
ENST00000367399.6:c.3714A>T	ENSP00000356369.2:p.Ser1238=
ENST00000367400.7:c.4050A>T	ENSP00000356370.3:p.Ser1350=
ENST00000448952.1:c.284A>T	ENSP00000395407.1:n.284A>T
ENST00000484075.5:c.*161A>T	ENSP00000433932.1:n.*161A>T
ENST00000535699.5:c.3978A>T	ENSP00000438786.1:p.Ser1326=
ENST00000538660.5:c.2442A>T	ENSP00000438091.1:p.Ser814=
NM_001193640.1:c.3714A>T	NP_001180569.1:p.Ser1238=
NM_001257965.1:c.3978A>T	NP_001244894.1:p.Ser1326=
NM_001257966.1:c.2442A>T	NP_001244895.1:p.Ser814=
NM_201253.2:c.4050A>T	NP_957705.1:p.Ser1350=
NR_047563.1:n.4051A>T
NR_047564.1:n.4501A>T
XM_011509366.1:c.*155A>T	XP_011507668.1:n.*155A>T
XM_011509367.1:c.*29A>T	XP_011507669.1:n.*29A>T
XM_011509368.1:c.3468A>T	XP_011507670.1:p.Ser1156=
XM_011509369.1:c.2493A>T	XP_011507671.1:p.Ser831=
XM_011509369.2:c.2493A>T	XP_011507671.1:p.Ser831=
XM_017000851.1:c.3207A>T	XP_016856340.1:p.Ser1069=
XM_017000852.1:c.4185A>T	XP_016856341.1:p.Ser1395=
NM_201253.3:c.4050A>T MANE Select	NP_957705.1:p.Ser1350=
NM_001193640.2:c.3714A>T	NP_001180569.1:p.Ser1238=
NM_001257965.2:c.3978A>T	NP_001244894.1:p.Ser1326=
NR_047563.2:n.4003A>T
NR_047564.2:n.4453A>T
NM_001257966.2:c.2442A>T	NP_001244895.1:p.Ser814=