Canonical Allele Identifier: CA344035416

Gene: CRB1

Linked Data

• dbSNP Id: rs1234486295
• gnomAD v3: 1-197477674-A-G
• gnomAD v4: 1-197477674-A-G
• MyVariant Identifiers: chr1:g.197446804A>G (hg19) ; chr1:g.197477674A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477674A>G , CM000663.2:g.197477674A>G	GRCh38
NC_000001.10:g.197446804A>G , CM000663.1:g.197446804A>G	GRCh37
NC_000001.9:g.195713427A>G	NCBI36
NG_008483.1:g.214397A>G
NG_008483.2:g.281213A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4016A>G MANE Select	ENSP00000356370.3:p.Asp1339Gly
ENST00000367399.6:c.3680A>G	ENSP00000356369.2:p.Asp1227Gly
ENST00000367400.7:c.4016A>G	ENSP00000356370.3:p.Asp1339Gly
ENST00000448952.1:c.250A>G	ENSP00000395407.1:n.250A>G
ENST00000484075.5:c.*127A>G	ENSP00000433932.1:n.*127A>G
ENST00000535699.5:c.3944A>G	ENSP00000438786.1:p.Asp1315Gly
ENST00000538660.5:c.2408A>G	ENSP00000438091.1:p.Asp803Gly
NM_001193640.1:c.3680A>G	NP_001180569.1:p.Asp1227Gly
NM_001257965.1:c.3944A>G	NP_001244894.1:p.Asp1315Gly
NM_001257966.1:c.2408A>G	NP_001244895.1:p.Asp803Gly
NM_201253.2:c.4016A>G	NP_957705.1:p.Asp1339Gly
NR_047563.1:n.4017A>G
NR_047564.1:n.4467A>G
XM_011509366.1:c.*121A>G	XP_011507668.1:n.*121A>G
XM_011509367.1:c.3889A>G	XP_011507669.1:p.Thr1297Ala
XM_011509368.1:c.3434A>G	XP_011507670.1:p.Asp1145Gly
XM_011509369.1:c.2459A>G	XP_011507671.1:p.Asp820Gly
XM_011509369.2:c.2459A>G	XP_011507671.1:p.Asp820Gly
XM_017000851.1:c.3173A>G	XP_016856340.1:p.Asp1058Gly
XM_017000852.1:c.4151A>G	XP_016856341.1:p.Asp1384Gly
NM_201253.3:c.4016A>G MANE Select	NP_957705.1:p.Asp1339Gly
NM_001193640.2:c.3680A>G	NP_001180569.1:p.Asp1227Gly
NM_001257965.2:c.3944A>G	NP_001244894.1:p.Asp1315Gly
NR_047563.2:n.3969A>G
NR_047564.2:n.4419A>G
NM_001257966.2:c.2408A>G	NP_001244895.1:p.Asp803Gly