Canonical Allele Identifier: CA344040427

Gene: CRB1

Linked Data

• dbSNP Id: rs1254393801
• gnomAD v2: 1-197398598-G-A
• MyVariant Identifiers: chr1:g.197398598G>A (hg19) ; chr1:g.197429468G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197429468G>A , CM000663.2:g.197429468G>A	GRCh38
NC_000001.10:g.197398598G>A , CM000663.1:g.197398598G>A	GRCh37
NC_000001.9:g.195665221G>A	NCBI36
NG_008483.1:g.166191G>A
NG_008483.2:g.233007G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2696G>A MANE Select	ENSP00000356370.3:p.Gly899Glu
ENST00000638467.1:c.2696G>A	ENSP00000491102.1:p.Gly899Glu
ENST00000681519.1:c.1577G>A	ENSP00000505267.1:p.Gly526Glu
ENST00000367397.1:c.839G>A	ENSP00000356367.1:p.Gly280Glu
ENST00000367399.6:c.2360G>A	ENSP00000356369.2:p.Gly787Glu
ENST00000367400.7:c.2696G>A	ENSP00000356370.3:p.Gly899Glu
ENST00000484075.5:c.2696G>A	ENSP00000433932.1:p.Gly899Glu
ENST00000535699.5:c.2624G>A	ENSP00000438786.1:p.Gly875Glu
ENST00000538660.5:c.2129-6132G>A	ENSP00000438091.1:n.2129-6132G>A
NM_001193640.1:c.2360G>A	NP_001180569.1:p.Gly787Glu
NM_001257965.1:c.2624G>A	NP_001244894.1:p.Gly875Glu
NM_001257966.1:c.2129-6132G>A	NP_001244895.1:n.2129-6132G>A
NM_201253.2:c.2696G>A	NP_957705.1:p.Gly899Glu
NR_047563.1:n.2697G>A
NR_047564.1:n.2905G>A
XM_011509365.1:c.2696G>A	XP_011507667.1:p.Gly899Glu
XM_011509366.1:c.2696G>A	XP_011507668.1:p.Gly899Glu
XM_011509367.1:c.2696G>A	XP_011507669.1:p.Gly899Glu
XM_011509368.1:c.2114G>A	XP_011507670.1:p.Gly705Glu
XM_011509369.1:c.1139G>A	XP_011507671.1:p.Gly380Glu
XM_011509365.2:c.2696G>A	XP_011507667.1:p.Gly899Glu
XM_011509369.2:c.1139G>A	XP_011507671.1:p.Gly380Glu
XM_017000851.1:c.1853G>A	XP_016856340.1:p.Gly618Glu
XM_017000852.1:c.2831G>A	XP_016856341.1:p.Gly944Glu
NM_201253.3:c.2696G>A MANE Select	NP_957705.1:p.Gly899Glu
NM_001193640.2:c.2360G>A	NP_001180569.1:p.Gly787Glu
NM_001257965.2:c.2624G>A	NP_001244894.1:p.Gly875Glu
NR_047563.2:n.2649G>A
NR_047564.2:n.2857G>A
NM_001257966.2:c.2129-6132G>A	NP_001244895.1:n.2129-6132G>A