Canonical Allele Identifier: CA422677477

Gene: CRB1

Linked Data

• dbSNP Id: rs1667257557
• gnomAD v3: 1-197477696-C-G
• gnomAD v4: 1-197477696-C-G
• MyVariant Identifiers: chr1:g.197446826C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477696C>G , CM000663.2:g.197477696C>G	GRCh38
NC_000001.10:g.197446826C>G , CM000663.1:g.197446826C>G	GRCh37
NC_000001.9:g.195713449C>G	NCBI36
NG_008483.1:g.214419C>G
NG_008483.2:g.281235C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4038C>G MANE Select	ENSP00000356370.3:p.Thr1346=
ENST00000367399.6:c.3702C>G	ENSP00000356369.2:p.Thr1234=
ENST00000367400.7:c.4038C>G	ENSP00000356370.3:p.Thr1346=
ENST00000448952.1:c.272C>G	ENSP00000395407.1:n.272C>G
ENST00000484075.5:c.*149C>G	ENSP00000433932.1:n.*149C>G
ENST00000535699.5:c.3966C>G	ENSP00000438786.1:p.Thr1322=
ENST00000538660.5:c.2430C>G	ENSP00000438091.1:p.Thr810=
NM_001193640.1:c.3702C>G	NP_001180569.1:p.Thr1234=
NM_001257965.1:c.3966C>G	NP_001244894.1:p.Thr1322=
NM_001257966.1:c.2430C>G	NP_001244895.1:p.Thr810=
NM_201253.2:c.4038C>G	NP_957705.1:p.Thr1346=
NR_047563.1:n.4039C>G
NR_047564.1:n.4489C>G
XM_011509366.1:c.*143C>G	XP_011507668.1:n.*143C>G
XM_011509367.1:c.*17C>G	XP_011507669.1:n.*17C>G
XM_011509368.1:c.3456C>G	XP_011507670.1:p.Thr1152=
XM_011509369.1:c.2481C>G	XP_011507671.1:p.Thr827=
XM_011509369.2:c.2481C>G	XP_011507671.1:p.Thr827=
XM_017000851.1:c.3195C>G	XP_016856340.1:p.Thr1065=
XM_017000852.1:c.4173C>G	XP_016856341.1:p.Thr1391=
NM_201253.3:c.4038C>G MANE Select	NP_957705.1:p.Thr1346=
NM_001193640.2:c.3702C>G	NP_001180569.1:p.Thr1234=
NM_001257965.2:c.3966C>G	NP_001244894.1:p.Thr1322=
NR_047563.2:n.3991C>G
NR_047564.2:n.4441C>G
NM_001257966.2:c.2430C>G	NP_001244895.1:p.Thr810=