Canonical Allele Identifier: CA344044226

Gene: CRB1

Linked Data

• dbSNP Id: rs1286621680
• gnomAD v2: 1-197403971-A-G
• gnomAD v4: 1-197434841-A-G
• MyVariant Identifiers: chr1:g.197403971A>G (hg19) ; chr1:g.197434841A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434841A>G , CM000663.2:g.197434841A>G	GRCh38
NC_000001.10:g.197403971A>G , CM000663.1:g.197403971A>G	GRCh37
NC_000001.9:g.195670594A>G	NCBI36
NG_008483.1:g.171564A>G
NG_008483.2:g.238380A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2978A>G MANE Select	ENSP00000356370.3:p.Glu993Gly
ENST00000638467.1:c.2978A>G	ENSP00000491102.1:p.Glu993Gly
ENST00000681519.1:c.1859A>G	ENSP00000505267.1:p.Glu620Gly
ENST00000367397.1:c.1121A>G	ENSP00000356367.1:p.Glu374Gly
ENST00000367399.6:c.2642A>G	ENSP00000356369.2:p.Glu881Gly
ENST00000367400.7:c.2978A>G	ENSP00000356370.3:p.Glu993Gly
ENST00000484075.5:c.2978A>G	ENSP00000433932.1:p.Glu993Gly
ENST00000535699.5:c.2906A>G	ENSP00000438786.1:p.Glu969Gly
ENST00000538660.5:c.2129-759A>G	ENSP00000438091.1:n.2129-759A>G
NM_001193640.1:c.2642A>G	NP_001180569.1:p.Glu881Gly
NM_001257965.1:c.2906A>G	NP_001244894.1:p.Glu969Gly
NM_001257966.1:c.2129-759A>G	NP_001244895.1:n.2129-759A>G
NM_201253.2:c.2978A>G	NP_957705.1:p.Glu993Gly
NR_047563.1:n.2979A>G
NR_047564.1:n.3187A>G
XM_011509365.1:c.2978A>G	XP_011507667.1:p.Glu993Gly
XM_011509366.1:c.2978A>G	XP_011507668.1:p.Glu993Gly
XM_011509367.1:c.2978A>G	XP_011507669.1:p.Glu993Gly
XM_011509368.1:c.2396A>G	XP_011507670.1:p.Glu799Gly
XM_011509369.1:c.1421A>G	XP_011507671.1:p.Glu474Gly
XM_011509365.2:c.2978A>G	XP_011507667.1:p.Glu993Gly
XM_011509369.2:c.1421A>G	XP_011507671.1:p.Glu474Gly
XM_017000851.1:c.2135A>G	XP_016856340.1:p.Glu712Gly
XM_017000852.1:c.3113A>G	XP_016856341.1:p.Glu1038Gly
NM_201253.3:c.2978A>G MANE Select	NP_957705.1:p.Glu993Gly
NM_001193640.2:c.2642A>G	NP_001180569.1:p.Glu881Gly
NM_001257965.2:c.2906A>G	NP_001244894.1:p.Glu969Gly
NR_047563.2:n.2931A>G
NR_047564.2:n.3139A>G
NM_001257966.2:c.2129-759A>G	NP_001244895.1:n.2129-759A>G