Canonical Allele Identifier: CA1312459

Gene: CRB1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197442284G>A , CM000663.2:g.197442284G>A	GRCh38
NC_000001.10:g.197411414G>A , CM000663.1:g.197411414G>A	GRCh37
NC_000001.9:g.195678037G>A	NCBI36
NG_008483.1:g.179007G>A
NG_008483.2:g.245823G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3997G>A MANE Select	ENSP00000356370.3:p.Glu1333Lys
ENST00000638467.1:c.3997G>A	ENSP00000491102.1:p.Glu1333Lys
ENST00000681519.1:c.2878G>A	ENSP00000505267.1:p.Glu960Lys
ENST00000367397.1:c.*3605G>A	ENSP00000356367.1:n.*3605G>A
ENST00000367399.6:c.3661G>A	ENSP00000356369.2:p.Glu1221Lys
ENST00000367400.7:c.3997G>A	ENSP00000356370.3:p.Glu1333Lys
ENST00000448952.1:c.115G>A	ENSP00000395407.1:p.Glu39Lys
ENST00000484075.5:c.3997G>A	ENSP00000433932.1:p.Glu1333Lys
ENST00000535699.5:c.3925G>A	ENSP00000438786.1:p.Glu1309Lys
ENST00000538660.5:c.2389G>A	ENSP00000438091.1:p.Glu797Lys
NM_001193640.1:c.3661G>A	NP_001180569.1:p.Glu1221Lys
NM_001257965.1:c.3925G>A	NP_001244894.1:p.Glu1309Lys
NM_001257966.1:c.2389G>A	NP_001244895.1:p.Glu797Lys
NM_201253.2:c.3997G>A	NP_957705.1:p.Glu1333Lys
NR_047563.1:n.3998G>A
NR_047564.1:n.4206G>A
XM_011509365.1:c.3997G>A	XP_011507667.1:p.Glu1333Lys
XM_011509366.1:c.3997G>A	XP_011507668.1:p.Glu1333Lys
XM_011509367.1:c.3878+3609G>A	XP_011507669.1:n.3878+3609G>A
XM_011509368.1:c.3415G>A	XP_011507670.1:p.Glu1139Lys
XM_011509369.1:c.2440G>A	XP_011507671.1:p.Glu814Lys
XM_011509365.2:c.3997G>A	XP_011507667.1:p.Glu1333Lys
XM_011509369.2:c.2440G>A	XP_011507671.1:p.Glu814Lys
XM_017000851.1:c.3154G>A	XP_016856340.1:p.Glu1052Lys
XM_017000852.1:c.4132G>A	XP_016856341.1:p.Glu1378Lys
NM_201253.3:c.3997G>A MANE Select	NP_957705.1:p.Glu1333Lys
NM_001193640.2:c.3661G>A	NP_001180569.1:p.Glu1221Lys
NM_001257965.2:c.3925G>A	NP_001244894.1:p.Glu1309Lys
NR_047563.2:n.3950G>A
NR_047564.2:n.4158G>A
NM_001257966.2:c.2389G>A	NP_001244895.1:p.Glu797Lys