Canonical Allele Identifier: CA1312319

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1046851
• ClinVar RCV Id: RCV001351464 ; RCV001831169
• dbSNP Id: rs779253997
• ExAC: 1:197404336 G / C
• gnomAD v2: 1-197404336-G-C
• gnomAD v3: 1-197435206-G-C
• gnomAD v4: 1-197435206-G-C
• MyVariant Identifiers: chr1:g.197404336G>C (hg19) ; chr1:g.197435206G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435206G>C , CM000663.2:g.197435206G>C	GRCh38
NC_000001.10:g.197404336G>C , CM000663.1:g.197404336G>C	GRCh37
NC_000001.9:g.195670959G>C	NCBI36
NG_008483.1:g.171929G>C
NG_008483.2:g.238745G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3343G>C MANE Select	ENSP00000356370.3:p.Gly1115Arg
ENST00000638467.1:c.3343G>C	ENSP00000491102.1:p.Gly1115Arg
ENST00000681519.1:c.2224G>C	ENSP00000505267.1:p.Gly742Arg
ENST00000367397.1:c.1486G>C	ENSP00000356367.1:p.Gly496Arg
ENST00000367399.6:c.3007G>C	ENSP00000356369.2:p.Gly1003Arg
ENST00000367400.7:c.3343G>C	ENSP00000356370.3:p.Gly1115Arg
ENST00000484075.5:c.3343G>C	ENSP00000433932.1:p.Gly1115Arg
ENST00000535699.5:c.3271G>C	ENSP00000438786.1:p.Gly1091Arg
ENST00000538660.5:c.2129-394G>C	ENSP00000438091.1:n.2129-394G>C
NM_001193640.1:c.3007G>C	NP_001180569.1:p.Gly1003Arg
NM_001257965.1:c.3271G>C	NP_001244894.1:p.Gly1091Arg
NM_001257966.1:c.2129-394G>C	NP_001244895.1:n.2129-394G>C
NM_201253.2:c.3343G>C	NP_957705.1:p.Gly1115Arg
NR_047563.1:n.3344G>C
NR_047564.1:n.3552G>C
XM_011509365.1:c.3343G>C	XP_011507667.1:p.Gly1115Arg
XM_011509366.1:c.3343G>C	XP_011507668.1:p.Gly1115Arg
XM_011509367.1:c.3343G>C	XP_011507669.1:p.Gly1115Arg
XM_011509368.1:c.2761G>C	XP_011507670.1:p.Gly921Arg
XM_011509369.1:c.1786G>C	XP_011507671.1:p.Gly596Arg
XM_011509365.2:c.3343G>C	XP_011507667.1:p.Gly1115Arg
XM_011509369.2:c.1786G>C	XP_011507671.1:p.Gly596Arg
XM_017000851.1:c.2500G>C	XP_016856340.1:p.Gly834Arg
XM_017000852.1:c.3478G>C	XP_016856341.1:p.Gly1160Arg
NM_201253.3:c.3343G>C MANE Select	NP_957705.1:p.Gly1115Arg
NM_001193640.2:c.3007G>C	NP_001180569.1:p.Gly1003Arg
NM_001257965.2:c.3271G>C	NP_001244894.1:p.Gly1091Arg
NR_047563.2:n.3296G>C
NR_047564.2:n.3504G>C
NM_001257966.2:c.2129-394G>C	NP_001244895.1:n.2129-394G>C