Canonical Allele Identifier: CA117711

Gene: CRB1

Linked Data

• ClinVar Variation Id: 5739
• ClinVar RCV Id: RCV000006093 ; RCV000006094 ; RCV000086341 ; RCV000648818 ; RCV000786009 ; RCV001002998 ; RCV001073404 ; RCV003450617
• dbSNP Id: rs62636275
• ExAC: 1:197404300 G / A
• gnomAD v2: 1-197404300-G-A
• gnomAD v3: 1-197435170-G-A
• gnomAD v4: 1-197435170-G-A
• COSMIC: COSM1242154
• MyVariant Identifiers: chr1:g.197404300G>A (hg19) ; chr1:g.197435170G>A (hg38)
• PubMed: PMID:15024725 ; PMID:16543197 ; PMID:19140180 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435170G>A , CM000663.2:g.197435170G>A	GRCh38
NC_000001.10:g.197404300G>A , CM000663.1:g.197404300G>A	GRCh37
NC_000001.9:g.195670923G>A	NCBI36
NG_008483.1:g.171893G>A
NG_008483.2:g.238709G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.3307G>A MANE Select	ENSP00000356370.3:p.Gly1103Arg
ENST00000638467.1:c.3307G>A	ENSP00000491102.1:p.Gly1103Arg
ENST00000681519.1:c.2188G>A	ENSP00000505267.1:p.Gly730Arg
ENST00000367397.1:c.1450G>A	ENSP00000356367.1:p.Gly484Arg
ENST00000367399.6:c.2971G>A	ENSP00000356369.2:p.Gly991Arg
ENST00000367400.7:c.3307G>A	ENSP00000356370.3:p.Gly1103Arg
ENST00000484075.5:c.3307G>A	ENSP00000433932.1:p.Gly1103Arg
ENST00000535699.5:c.3235G>A	ENSP00000438786.1:p.Gly1079Arg
ENST00000538660.5:c.2129-430G>A	ENSP00000438091.1:n.2129-430G>A
NM_001193640.1:c.2971G>A	NP_001180569.1:p.Gly991Arg
NM_001257965.1:c.3235G>A	NP_001244894.1:p.Gly1079Arg
NM_001257966.1:c.2129-430G>A	NP_001244895.1:n.2129-430G>A
NM_201253.2:c.3307G>A	NP_957705.1:p.Gly1103Arg
NR_047563.1:n.3308G>A
NR_047564.1:n.3516G>A
XM_011509365.1:c.3307G>A	XP_011507667.1:p.Gly1103Arg
XM_011509366.1:c.3307G>A	XP_011507668.1:p.Gly1103Arg
XM_011509367.1:c.3307G>A	XP_011507669.1:p.Gly1103Arg
XM_011509368.1:c.2725G>A	XP_011507670.1:p.Gly909Arg
XM_011509369.1:c.1750G>A	XP_011507671.1:p.Gly584Arg
XM_011509365.2:c.3307G>A	XP_011507667.1:p.Gly1103Arg
XM_011509369.2:c.1750G>A	XP_011507671.1:p.Gly584Arg
XM_017000851.1:c.2464G>A	XP_016856340.1:p.Gly822Arg
XM_017000852.1:c.3442G>A	XP_016856341.1:p.Gly1148Arg
NM_201253.3:c.3307G>A MANE Select	NP_957705.1:p.Gly1103Arg
NM_001193640.2:c.2971G>A	NP_001180569.1:p.Gly991Arg
NM_001257965.2:c.3235G>A	NP_001244894.1:p.Gly1079Arg
NR_047563.2:n.3260G>A
NR_047564.2:n.3468G>A
NM_001257966.2:c.2129-430G>A	NP_001244895.1:n.2129-430G>A