Canonical Allele Identifier: CA35893814

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1901085
• ClinVar RCV Id: RCV002586130
• dbSNP Id: rs992823566
• MyVariant Identifiers: chr1:g.197390831G>A (hg19) ; chr1:g.197421701G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421701G>A , CM000663.2:g.197421701G>A	GRCh38
NC_000001.10:g.197390831G>A , CM000663.1:g.197390831G>A	GRCh37
NC_000001.9:g.195657454G>A	NCBI36
NG_008483.1:g.158424G>A
NG_008483.2:g.225240G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1873G>A MANE Select	ENSP00000356370.3:p.Val625Ile
ENST00000638467.1:c.1873G>A	ENSP00000491102.1:p.Val625Ile
ENST00000681519.1:c.754G>A	ENSP00000505267.1:p.Val252Ile
ENST00000367397.1:c.16G>A	ENSP00000356367.1:p.Val6Ile
ENST00000367399.6:c.1537G>A	ENSP00000356369.2:p.Val513Ile
ENST00000367400.7:c.1873G>A	ENSP00000356370.3:p.Val625Ile
ENST00000484075.5:c.1873G>A	ENSP00000433932.1:p.Val625Ile
ENST00000535699.5:c.1666G>A	ENSP00000438786.1:p.Val556Ile
ENST00000538660.5:c.1873G>A	ENSP00000438091.1:p.Val625Ile
NM_001193640.1:c.1537G>A	NP_001180569.1:p.Val513Ile
NM_001257965.1:c.1666G>A	NP_001244894.1:p.Val556Ile
NM_001257966.1:c.1873G>A	NP_001244895.1:p.Val625Ile
NM_201253.2:c.1873G>A	NP_957705.1:p.Val625Ile
NR_047563.1:n.1923-49G>A
NR_047564.1:n.2082G>A
XM_011509365.1:c.1873G>A	XP_011507667.1:p.Val625Ile
XM_011509366.1:c.1873G>A	XP_011507668.1:p.Val625Ile
XM_011509367.1:c.1873G>A	XP_011507669.1:p.Val625Ile
XM_011509368.1:c.1291G>A	XP_011507670.1:p.Val431Ile
XM_011509369.1:c.316G>A	XP_011507671.1:p.Val106Ile
XM_011509365.2:c.1873G>A	XP_011507667.1:p.Val625Ile
XM_011509369.2:c.316G>A	XP_011507671.1:p.Val106Ile
XM_017000851.1:c.1030G>A	XP_016856340.1:p.Val344Ile
XM_017000852.1:c.1873G>A	XP_016856341.1:p.Val625Ile
NM_201253.3:c.1873G>A MANE Select	NP_957705.1:p.Val625Ile
NM_001193640.2:c.1537G>A	NP_001180569.1:p.Val513Ile
NM_001257965.2:c.1666G>A	NP_001244894.1:p.Val556Ile
NR_047563.2:n.1875-49G>A
NR_047564.2:n.2034G>A
NM_001257966.2:c.1873G>A	NP_001244895.1:p.Val625Ile