Canonical Allele Identifier: CA227987

Gene: CRB1

Linked Data

• ClinVar Variation Id: 99866
• ClinVar RCV Id: RCV000086304 ; RCV001002989 ; RCV001250593 ; RCV001857423 ; RCV002498468 ; RCV003453010 ; RCV003453011
• dbSNP Id: rs62645754
• gnomAD v2: 1-197326120-G-A
• gnomAD v4: 1-197356990-G-A
• MyVariant Identifiers: chr1:g.197326120G>A (hg19) ; chr1:g.197356990G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197356990G>A , CM000663.2:g.197356990G>A	GRCh38
NC_000001.10:g.197326120G>A , CM000663.1:g.197326120G>A	GRCh37
NC_000001.9:g.195592743G>A	NCBI36
NG_008483.1:g.93713G>A
NG_008483.2:g.160529G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1148G>A MANE Select	ENSP00000356370.3:p.Cys383Tyr
ENST00000638467.1:c.1148G>A	ENSP00000491102.1:p.Cys383Tyr
ENST00000367399.6:c.812G>A	ENSP00000356369.2:p.Cys271Tyr
ENST00000367400.7:c.1148G>A	ENSP00000356370.3:p.Cys383Tyr
ENST00000475659.1:n.1285G>A
ENST00000484075.5:c.1148G>A	ENSP00000433932.1:p.Cys383Tyr
ENST00000535699.5:c.941G>A	ENSP00000438786.1:p.Cys314Tyr
ENST00000538660.5:c.1148G>A	ENSP00000438091.1:p.Cys383Tyr
NM_001193640.1:c.812G>A	NP_001180569.1:p.Cys271Tyr
NM_001257965.1:c.941G>A	NP_001244894.1:p.Cys314Tyr
NM_001257966.1:c.1148G>A	NP_001244895.1:p.Cys383Tyr
NM_201253.2:c.1148G>A	NP_957705.1:p.Cys383Tyr
NR_047563.1:n.1357G>A
NR_047564.1:n.1357G>A
XM_011509365.1:c.1148G>A	XP_011507667.1:p.Cys383Tyr
XM_011509366.1:c.1148G>A	XP_011507668.1:p.Cys383Tyr
XM_011509367.1:c.1148G>A	XP_011507669.1:p.Cys383Tyr
XM_011509368.1:c.566G>A	XP_011507670.1:p.Cys189Tyr
XM_011509365.2:c.1148G>A	XP_011507667.1:p.Cys383Tyr
XM_017000851.1:c.305G>A	XP_016856340.1:p.Cys102Tyr
XM_017000852.1:c.1148G>A	XP_016856341.1:p.Cys383Tyr
NM_201253.3:c.1148G>A MANE Select	NP_957705.1:p.Cys383Tyr
NM_001193640.2:c.812G>A	NP_001180569.1:p.Cys271Tyr
NM_001257965.2:c.941G>A	NP_001244894.1:p.Cys314Tyr
NR_047563.2:n.1309G>A
NR_047564.2:n.1309G>A
NM_001257966.2:c.1148G>A	NP_001244895.1:p.Cys383Tyr