Canonical Allele Identifier: CA10588916

Gene: CRB1

Linked Data

• ClinVar Variation Id: 265984
• ClinVar RCV Id: RCV000256380
• dbSNP Id: rs886039871
• MyVariant Identifiers: chr1:g.197326015G>A (hg19) ; chr1:g.197356885G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197356885G>A , CM000663.2:g.197356885G>A	GRCh38
NC_000001.10:g.197326015G>A , CM000663.1:g.197326015G>A	GRCh37
NC_000001.9:g.195592638G>A	NCBI36
NG_008483.1:g.93608G>A
NG_008483.2:g.160424G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1043G>A MANE Select	ENSP00000356370.3:p.Cys348Tyr
ENST00000638467.1:c.1043G>A	ENSP00000491102.1:p.Cys348Tyr
ENST00000367399.6:c.707G>A	ENSP00000356369.2:p.Cys236Tyr
ENST00000367400.7:c.1043G>A	ENSP00000356370.3:p.Cys348Tyr
ENST00000475659.1:n.1180G>A
ENST00000484075.5:c.1043G>A	ENSP00000433932.1:p.Cys348Tyr
ENST00000535699.5:c.836G>A	ENSP00000438786.1:p.Cys279Tyr
ENST00000538660.5:c.1043G>A	ENSP00000438091.1:p.Cys348Tyr
NM_001193640.1:c.707G>A	NP_001180569.1:p.Cys236Tyr
NM_001257965.1:c.836G>A	NP_001244894.1:p.Cys279Tyr
NM_001257966.1:c.1043G>A	NP_001244895.1:p.Cys348Tyr
NM_201253.2:c.1043G>A	NP_957705.1:p.Cys348Tyr
NR_047563.1:n.1252G>A
NR_047564.1:n.1252G>A
XM_011509365.1:c.1043G>A	XP_011507667.1:p.Cys348Tyr
XM_011509366.1:c.1043G>A	XP_011507668.1:p.Cys348Tyr
XM_011509367.1:c.1043G>A	XP_011507669.1:p.Cys348Tyr
XM_011509368.1:c.461G>A	XP_011507670.1:p.Cys154Tyr
XM_011509365.2:c.1043G>A	XP_011507667.1:p.Cys348Tyr
XM_017000851.1:c.200G>A	XP_016856340.1:p.Cys67Tyr
XM_017000852.1:c.1043G>A	XP_016856341.1:p.Cys348Tyr
NM_201253.3:c.1043G>A MANE Select	NP_957705.1:p.Cys348Tyr
NM_001193640.2:c.707G>A	NP_001180569.1:p.Cys236Tyr
NM_001257965.2:c.836G>A	NP_001244894.1:p.Cys279Tyr
NR_047563.2:n.1204G>A
NR_047564.2:n.1204G>A
NM_001257966.2:c.1043G>A	NP_001244895.1:p.Cys348Tyr