Canonical Allele Identifier: CA10605363

Gene: CRB1

Linked Data

• ClinVar Variation Id: 286106
• ClinVar RCV Id: RCV000270090
• dbSNP Id: rs886043310
• gnomAD v4: 1-197434901-A-C
• MyVariant Identifiers: chr1:g.197404031A>C (hg19) ; chr1:g.197434901A>C (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434901A>C , CM000663.2:g.197434901A>C	GRCh38
NC_000001.10:g.197404031A>C , CM000663.1:g.197404031A>C	GRCh37
NC_000001.9:g.195670654A>C	NCBI36
NG_008483.1:g.171624A>C
NG_008483.2:g.238440A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3038A>C MANE Select	ENSP00000356370.3:p.Gln1013Pro
ENST00000638467.1:c.3038A>C	ENSP00000491102.1:p.Gln1013Pro
ENST00000681519.1:c.1919A>C	ENSP00000505267.1:p.Gln640Pro
ENST00000367397.1:c.1181A>C	ENSP00000356367.1:p.Gln394Pro
ENST00000367399.6:c.2702A>C	ENSP00000356369.2:p.Gln901Pro
ENST00000367400.7:c.3038A>C	ENSP00000356370.3:p.Gln1013Pro
ENST00000484075.5:c.3038A>C	ENSP00000433932.1:p.Gln1013Pro
ENST00000535699.5:c.2966A>C	ENSP00000438786.1:p.Gln989Pro
ENST00000538660.5:c.2129-699A>C	ENSP00000438091.1:n.2129-699A>C
NM_001193640.1:c.2702A>C	NP_001180569.1:p.Gln901Pro
NM_001257965.1:c.2966A>C	NP_001244894.1:p.Gln989Pro
NM_001257966.1:c.2129-699A>C	NP_001244895.1:n.2129-699A>C
NM_201253.2:c.3038A>C	NP_957705.1:p.Gln1013Pro
NR_047563.1:n.3039A>C
NR_047564.1:n.3247A>C
XM_011509365.1:c.3038A>C	XP_011507667.1:p.Gln1013Pro
XM_011509366.1:c.3038A>C	XP_011507668.1:p.Gln1013Pro
XM_011509367.1:c.3038A>C	XP_011507669.1:p.Gln1013Pro
XM_011509368.1:c.2456A>C	XP_011507670.1:p.Gln819Pro
XM_011509369.1:c.1481A>C	XP_011507671.1:p.Gln494Pro
XM_011509365.2:c.3038A>C	XP_011507667.1:p.Gln1013Pro
XM_011509369.2:c.1481A>C	XP_011507671.1:p.Gln494Pro
XM_017000851.1:c.2195A>C	XP_016856340.1:p.Gln732Pro
XM_017000852.1:c.3173A>C	XP_016856341.1:p.Gln1058Pro
NM_201253.3:c.3038A>C MANE Select	NP_957705.1:p.Gln1013Pro
NM_001193640.2:c.2702A>C	NP_001180569.1:p.Gln901Pro
NM_001257965.2:c.2966A>C	NP_001244894.1:p.Gln989Pro
NR_047563.2:n.2991A>C
NR_047564.2:n.3199A>C
NM_001257966.2:c.2129-699A>C	NP_001244895.1:n.2129-699A>C