Canonical Allele Identifier: CA1312221

Gene: CRB1

Linked Data

• ClinVar Variation Id: 438078
• ClinVar RCV Id: RCV000504958 ; RCV001310547 ; RCV001857211 ; RCV001250645 ; RCV003446102
• dbSNP Id: rs773914330
• ExAC: 1:197398749 G / A
• gnomAD v2: 1-197398749-G-A
• gnomAD v3: 1-197429619-G-A
• gnomAD v4: 1-197429619-G-A
• MyVariant Identifiers: chr1:g.197398749G>A (hg19) ; chr1:g.197429619G>A (hg38)
• PubMed: PMID:10508521 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197429619G>A , CM000663.2:g.197429619G>A	GRCh38
NC_000001.10:g.197398749G>A , CM000663.1:g.197398749G>A	GRCh37
NC_000001.9:g.195665372G>A	NCBI36
NG_008483.1:g.166342G>A
NG_008483.2:g.233158G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2842+5G>A MANE Select	ENSP00000356370.3:n.2842+5G>A
ENST00000638467.1:c.2842+5G>A	ENSP00000491102.1:n.2842+5G>A
ENST00000681519.1:c.1723+5G>A	ENSP00000505267.1:n.1723+5G>A
ENST00000367397.1:c.985+5G>A	ENSP00000356367.1:n.985+5G>A
ENST00000367399.6:c.2506+5G>A	ENSP00000356369.2:n.2506+5G>A
ENST00000367400.7:c.2842+5G>A	ENSP00000356370.3:n.2842+5G>A
ENST00000484075.5:c.2842+5G>A	ENSP00000433932.1:n.2842+5G>A
ENST00000535699.5:c.2770+5G>A	ENSP00000438786.1:n.2770+5G>A
ENST00000538660.5:c.2129-5981G>A	ENSP00000438091.1:n.2129-5981G>A
NM_001193640.1:c.2506+5G>A	NP_001180569.1:n.2506+5G>A
NM_001257965.1:c.2770+5G>A	NP_001244894.1:n.2770+5G>A
NM_001257966.1:c.2129-5981G>A	NP_001244895.1:n.2129-5981G>A
NM_201253.2:c.2842+5G>A	NP_957705.1:n.2842+5G>A
NR_047563.1:n.2843+5G>A
NR_047564.1:n.3051+5G>A
XM_011509365.1:c.2842+5G>A	XP_011507667.1:n.2842+5G>A
XM_011509366.1:c.2842+5G>A	XP_011507668.1:n.2842+5G>A
XM_011509367.1:c.2842+5G>A	XP_011507669.1:n.2842+5G>A
XM_011509368.1:c.2260+5G>A	XP_011507670.1:n.2260+5G>A
XM_011509369.1:c.1285+5G>A	XP_011507671.1:n.1285+5G>A
XM_011509365.2:c.2842+5G>A	XP_011507667.1:n.2842+5G>A
XM_011509369.2:c.1285+5G>A	XP_011507671.1:n.1285+5G>A
XM_017000851.1:c.1999+5G>A	XP_016856340.1:n.1999+5G>A
XM_017000852.1:c.2977+5G>A	XP_016856341.1:n.2977+5G>A
NM_201253.3:c.2842+5G>A MANE Select	NP_957705.1:n.2842+5G>A
NM_001193640.2:c.2506+5G>A	NP_001180569.1:n.2506+5G>A
NM_001257965.2:c.2770+5G>A	NP_001244894.1:n.2770+5G>A
NR_047563.2:n.2795+5G>A
NR_047564.2:n.3003+5G>A
NM_001257966.2:c.2129-5981G>A	NP_001244895.1:n.2129-5981G>A