Canonical Allele Identifier: CA1311983

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2171659
• ClinVar RCV Id: RCV003088916
• dbSNP Id: rs778428918
• ExAC: 1:197390737 G / A
• gnomAD v2: 1-197390737-G-A
• gnomAD v3: 1-197421607-G-A
• gnomAD v4: 1-197421607-G-A
• COSMIC: COSM2125564 ; COSM4228559
• MyVariant Identifiers: chr1:g.197390737G>A (hg19) ; chr1:g.197421607G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421607G>A , CM000663.2:g.197421607G>A	GRCh38
NC_000001.10:g.197390737G>A , CM000663.1:g.197390737G>A	GRCh37
NC_000001.9:g.195657360G>A	NCBI36
NG_008483.1:g.158330G>A
NG_008483.2:g.225146G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1779G>A MANE Select	ENSP00000356370.3:p.Ala593=
ENST00000638467.1:c.1779G>A	ENSP00000491102.1:p.Ala593=
ENST00000681519.1:c.660G>A	ENSP00000505267.1:p.Ala220=
ENST00000367397.1:c.-79G>A	ENSP00000356367.1:n.-79G>A
ENST00000367399.6:c.1443G>A	ENSP00000356369.2:p.Ala481=
ENST00000367400.7:c.1779G>A	ENSP00000356370.3:p.Ala593=
ENST00000484075.5:c.1779G>A	ENSP00000433932.1:p.Ala593=
ENST00000535699.5:c.1572G>A	ENSP00000438786.1:p.Ala524=
ENST00000538660.5:c.1779G>A	ENSP00000438091.1:p.Ala593=
NM_001193640.1:c.1443G>A	NP_001180569.1:p.Ala481=
NM_001257965.1:c.1572G>A	NP_001244894.1:p.Ala524=
NM_001257966.1:c.1779G>A	NP_001244895.1:p.Ala593=
NM_201253.2:c.1779G>A	NP_957705.1:p.Ala593=
NR_047563.1:n.1922+66G>A
NR_047564.1:n.1988G>A
XM_011509365.1:c.1779G>A	XP_011507667.1:p.Ala593=
XM_011509366.1:c.1779G>A	XP_011507668.1:p.Ala593=
XM_011509367.1:c.1779G>A	XP_011507669.1:p.Ala593=
XM_011509368.1:c.1197G>A	XP_011507670.1:p.Ala399=
XM_011509369.1:c.222G>A	XP_011507671.1:p.Ala74=
XM_011509365.2:c.1779G>A	XP_011507667.1:p.Ala593=
XM_011509369.2:c.222G>A	XP_011507671.1:p.Ala74=
XM_017000851.1:c.936G>A	XP_016856340.1:p.Ala312=
XM_017000852.1:c.1779G>A	XP_016856341.1:p.Ala593=
NM_201253.3:c.1779G>A MANE Select	NP_957705.1:p.Ala593=
NM_001193640.2:c.1443G>A	NP_001180569.1:p.Ala481=
NM_001257965.2:c.1572G>A	NP_001244894.1:p.Ala524=
NR_047563.2:n.1874+66G>A
NR_047564.2:n.1940G>A
NM_001257966.2:c.1779G>A	NP_001244895.1:p.Ala593=