Canonical Allele Identifier: CA422672569

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2954495
• ClinVar RCV Id: RCV003815694
• gnomAD v4: 1-197434824-A-G
• MyVariant Identifiers: chr1:g.197403954A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434824A>G , CM000663.2:g.197434824A>G	GRCh38
NC_000001.10:g.197403954A>G , CM000663.1:g.197403954A>G	GRCh37
NC_000001.9:g.195670577A>G	NCBI36
NG_008483.1:g.171547A>G
NG_008483.2:g.238363A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2961A>G MANE Select	ENSP00000356370.3:p.Val987=
ENST00000638467.1:c.2961A>G	ENSP00000491102.1:p.Val987=
ENST00000681519.1:c.1842A>G	ENSP00000505267.1:p.Val614=
ENST00000367397.1:c.1104A>G	ENSP00000356367.1:p.Val368=
ENST00000367399.6:c.2625A>G	ENSP00000356369.2:p.Val875=
ENST00000367400.7:c.2961A>G	ENSP00000356370.3:p.Val987=
ENST00000484075.5:c.2961A>G	ENSP00000433932.1:p.Val987=
ENST00000535699.5:c.2889A>G	ENSP00000438786.1:p.Val963=
ENST00000538660.5:c.2129-776A>G	ENSP00000438091.1:n.2129-776A>G
NM_001193640.1:c.2625A>G	NP_001180569.1:p.Val875=
NM_001257965.1:c.2889A>G	NP_001244894.1:p.Val963=
NM_001257966.1:c.2129-776A>G	NP_001244895.1:n.2129-776A>G
NM_201253.2:c.2961A>G	NP_957705.1:p.Val987=
NR_047563.1:n.2962A>G
NR_047564.1:n.3170A>G
XM_011509365.1:c.2961A>G	XP_011507667.1:p.Val987=
XM_011509366.1:c.2961A>G	XP_011507668.1:p.Val987=
XM_011509367.1:c.2961A>G	XP_011507669.1:p.Val987=
XM_011509368.1:c.2379A>G	XP_011507670.1:p.Val793=
XM_011509369.1:c.1404A>G	XP_011507671.1:p.Val468=
XM_011509365.2:c.2961A>G	XP_011507667.1:p.Val987=
XM_011509369.2:c.1404A>G	XP_011507671.1:p.Val468=
XM_017000851.1:c.2118A>G	XP_016856340.1:p.Val706=
XM_017000852.1:c.3096A>G	XP_016856341.1:p.Val1032=
NM_201253.3:c.2961A>G MANE Select	NP_957705.1:p.Val987=
NM_001193640.2:c.2625A>G	NP_001180569.1:p.Val875=
NM_001257965.2:c.2889A>G	NP_001244894.1:p.Val963=
NR_047563.2:n.2914A>G
NR_047564.2:n.3122A>G
NM_001257966.2:c.2129-776A>G	NP_001244895.1:n.2129-776A>G