Canonical Allele Identifier: CA344038457

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2672375
• ClinVar RCV Id: RCV003456682
• dbSNP Id: rs1664680333
• MyVariant Identifiers: chr1:g.197397051C>A (hg19) ; chr1:g.197427921C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427921C>A , CM000663.2:g.197427921C>A	GRCh38
NC_000001.10:g.197397051C>A , CM000663.1:g.197397051C>A	GRCh37
NC_000001.9:g.195663674C>A	NCBI36
NG_008483.1:g.164644C>A
NG_008483.2:g.231460C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2596C>A MANE Select	ENSP00000356370.3:p.Pro866Thr
ENST00000638467.1:c.2596C>A	ENSP00000491102.1:p.Pro866Thr
ENST00000681519.1:c.1477C>A	ENSP00000505267.1:p.Pro493Thr
ENST00000367397.1:c.739C>A	ENSP00000356367.1:p.Pro247Thr
ENST00000367399.6:c.2260C>A	ENSP00000356369.2:p.Pro754Thr
ENST00000367400.7:c.2596C>A	ENSP00000356370.3:p.Pro866Thr
ENST00000484075.5:c.2596C>A	ENSP00000433932.1:p.Pro866Thr
ENST00000535699.5:c.2389C>A	ENSP00000438786.1:p.Pro797Thr
ENST00000538660.5:c.2128+5965C>A	ENSP00000438091.1:n.2128+5965C>A
NM_001193640.1:c.2260C>A	NP_001180569.1:p.Pro754Thr
NM_001257965.1:c.2389C>A	NP_001244894.1:p.Pro797Thr
NM_001257966.1:c.2128+5965C>A	NP_001244895.1:n.2128+5965C>A
NM_201253.2:c.2596C>A	NP_957705.1:p.Pro866Thr
NR_047563.1:n.2597C>A
NR_047564.1:n.2805C>A
XM_011509365.1:c.2596C>A	XP_011507667.1:p.Pro866Thr
XM_011509366.1:c.2596C>A	XP_011507668.1:p.Pro866Thr
XM_011509367.1:c.2596C>A	XP_011507669.1:p.Pro866Thr
XM_011509368.1:c.2014C>A	XP_011507670.1:p.Pro672Thr
XM_011509369.1:c.1039C>A	XP_011507671.1:p.Pro347Thr
XM_011509365.2:c.2596C>A	XP_011507667.1:p.Pro866Thr
XM_011509369.2:c.1039C>A	XP_011507671.1:p.Pro347Thr
XM_017000851.1:c.1753C>A	XP_016856340.1:p.Pro585Thr
XM_017000852.1:c.2596C>A	XP_016856341.1:p.Pro866Thr
NM_201253.3:c.2596C>A MANE Select	NP_957705.1:p.Pro866Thr
NM_001193640.2:c.2260C>A	NP_001180569.1:p.Pro754Thr
NM_001257965.2:c.2389C>A	NP_001244894.1:p.Pro797Thr
NR_047563.2:n.2549C>A
NR_047564.2:n.2757C>A
NM_001257966.2:c.2128+5965C>A	NP_001244895.1:n.2128+5965C>A