Canonical Allele Identifier: CA1312195

Gene: CRB1

Linked Data

• ClinVar Variation Id: 225327
• ClinVar RCV Id: RCV000262643 ; RCV000329706 ; RCV000490294 ; RCV000946241 ; RCV001275655 ; RCV003888643
• dbSNP Id: rs114052315
• ExAC: 1:197398616 G / A
• gnomAD v2: 1-197398616-G-A
• gnomAD v3: 1-197429486-G-A
• gnomAD v4: 1-197429486-G-A
• MyVariant Identifiers: chr1:g.197398616G>A (hg19) ; chr1:g.197429486G>A (hg38)
• PubMed: PMID:15459956 ; PMID:16123401

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197429486G>A , CM000663.2:g.197429486G>A	GRCh38
NC_000001.10:g.197398616G>A , CM000663.1:g.197398616G>A	GRCh37
NC_000001.9:g.195665239G>A	NCBI36
NG_008483.1:g.166209G>A
NG_008483.2:g.233025G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2714G>A MANE Select	ENSP00000356370.3:p.Arg905Gln
ENST00000638467.1:c.2714G>A	ENSP00000491102.1:p.Arg905Gln
ENST00000681519.1:c.1595G>A	ENSP00000505267.1:p.Arg532Gln
ENST00000367397.1:c.857G>A	ENSP00000356367.1:p.Arg286Gln
ENST00000367399.6:c.2378G>A	ENSP00000356369.2:p.Arg793Gln
ENST00000367400.7:c.2714G>A	ENSP00000356370.3:p.Arg905Gln
ENST00000484075.5:c.2714G>A	ENSP00000433932.1:p.Arg905Gln
ENST00000535699.5:c.2642G>A	ENSP00000438786.1:p.Arg881Gln
ENST00000538660.5:c.2129-6114G>A	ENSP00000438091.1:n.2129-6114G>A
NM_001193640.1:c.2378G>A	NP_001180569.1:p.Arg793Gln
NM_001257965.1:c.2642G>A	NP_001244894.1:p.Arg881Gln
NM_001257966.1:c.2129-6114G>A	NP_001244895.1:n.2129-6114G>A
NM_201253.2:c.2714G>A	NP_957705.1:p.Arg905Gln
NR_047563.1:n.2715G>A
NR_047564.1:n.2923G>A
XM_011509365.1:c.2714G>A	XP_011507667.1:p.Arg905Gln
XM_011509366.1:c.2714G>A	XP_011507668.1:p.Arg905Gln
XM_011509367.1:c.2714G>A	XP_011507669.1:p.Arg905Gln
XM_011509368.1:c.2132G>A	XP_011507670.1:p.Arg711Gln
XM_011509369.1:c.1157G>A	XP_011507671.1:p.Arg386Gln
XM_011509365.2:c.2714G>A	XP_011507667.1:p.Arg905Gln
XM_011509369.2:c.1157G>A	XP_011507671.1:p.Arg386Gln
XM_017000851.1:c.1871G>A	XP_016856340.1:p.Arg624Gln
XM_017000852.1:c.2849G>A	XP_016856341.1:p.Arg950Gln
NM_201253.3:c.2714G>A MANE Select	NP_957705.1:p.Arg905Gln
NM_001193640.2:c.2378G>A	NP_001180569.1:p.Arg793Gln
NM_001257965.2:c.2642G>A	NP_001244894.1:p.Arg881Gln
NR_047563.2:n.2667G>A
NR_047564.2:n.2875G>A
NM_001257966.2:c.2129-6114G>A	NP_001244895.1:n.2129-6114G>A