Canonical Allele Identifier: CA1312135

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1067601
• ClinVar RCV Id: RCV001378912
• dbSNP Id: rs772476137
• ExAC: 1:197396992 G / A
• gnomAD v2: 1-197396992-G-A
• gnomAD v4: 1-197427862-G-A
• MyVariant Identifiers: chr1:g.197396992G>A (hg19) ; chr1:g.197427862G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427862G>A , CM000663.2:g.197427862G>A	GRCh38
NC_000001.10:g.197396992G>A , CM000663.1:g.197396992G>A	GRCh37
NC_000001.9:g.195663615G>A	NCBI36
NG_008483.1:g.164585G>A
NG_008483.2:g.231401G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2537G>A MANE Select	ENSP00000356370.3:p.Gly846Glu
ENST00000638467.1:c.2537G>A	ENSP00000491102.1:p.Gly846Glu
ENST00000681519.1:c.1418G>A	ENSP00000505267.1:p.Gly473Glu
ENST00000367397.1:c.680G>A	ENSP00000356367.1:p.Gly227Glu
ENST00000367399.6:c.2201G>A	ENSP00000356369.2:p.Gly734Glu
ENST00000367400.7:c.2537G>A	ENSP00000356370.3:p.Gly846Glu
ENST00000484075.5:c.2537G>A	ENSP00000433932.1:p.Gly846Glu
ENST00000535699.5:c.2330G>A	ENSP00000438786.1:p.Gly777Glu
ENST00000538660.5:c.2128+5906G>A	ENSP00000438091.1:n.2128+5906G>A
NM_001193640.1:c.2201G>A	NP_001180569.1:p.Gly734Glu
NM_001257965.1:c.2330G>A	NP_001244894.1:p.Gly777Glu
NM_001257966.1:c.2128+5906G>A	NP_001244895.1:n.2128+5906G>A
NM_201253.2:c.2537G>A	NP_957705.1:p.Gly846Glu
NR_047563.1:n.2538G>A
NR_047564.1:n.2746G>A
XM_011509365.1:c.2537G>A	XP_011507667.1:p.Gly846Glu
XM_011509366.1:c.2537G>A	XP_011507668.1:p.Gly846Glu
XM_011509367.1:c.2537G>A	XP_011507669.1:p.Gly846Glu
XM_011509368.1:c.1955G>A	XP_011507670.1:p.Gly652Glu
XM_011509369.1:c.980G>A	XP_011507671.1:p.Gly327Glu
XM_011509365.2:c.2537G>A	XP_011507667.1:p.Gly846Glu
XM_011509369.2:c.980G>A	XP_011507671.1:p.Gly327Glu
XM_017000851.1:c.1694G>A	XP_016856340.1:p.Gly565Glu
XM_017000852.1:c.2537G>A	XP_016856341.1:p.Gly846Glu
NM_201253.3:c.2537G>A MANE Select	NP_957705.1:p.Gly846Glu
NM_001193640.2:c.2201G>A	NP_001180569.1:p.Gly734Glu
NM_001257965.2:c.2330G>A	NP_001244894.1:p.Gly777Glu
NR_047563.2:n.2490G>A
NR_047564.2:n.2698G>A
NM_001257966.2:c.2128+5906G>A	NP_001244895.1:n.2128+5906G>A