Canonical Allele Identifier: CA228038

Gene: CRB1

Linked Data

• ClinVar Variation Id: 99899
• ClinVar RCV Id: RCV000086344 ; RCV002514530
• dbSNP Id: rs62636277
• MyVariant Identifiers: chr1:g.197404324G>T (hg19) ; chr1:g.197435194G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435194G>T , CM000663.2:g.197435194G>T	GRCh38
NC_000001.10:g.197404324G>T , CM000663.1:g.197404324G>T	GRCh37
NC_000001.9:g.195670947G>T	NCBI36
NG_008483.1:g.171917G>T
NG_008483.2:g.238733G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3331G>T MANE Select	ENSP00000356370.3:p.Glu1111Ter
ENST00000638467.1:c.3331G>T	ENSP00000491102.1:p.Glu1111Ter
ENST00000681519.1:c.2212G>T	ENSP00000505267.1:p.Glu738Ter
ENST00000367397.1:c.1474G>T	ENSP00000356367.1:p.Glu492Ter
ENST00000367399.6:c.2995G>T	ENSP00000356369.2:p.Glu999Ter
ENST00000367400.7:c.3331G>T	ENSP00000356370.3:p.Glu1111Ter
ENST00000484075.5:c.3331G>T	ENSP00000433932.1:p.Glu1111Ter
ENST00000535699.5:c.3259G>T	ENSP00000438786.1:p.Glu1087Ter
ENST00000538660.5:c.2129-406G>T	ENSP00000438091.1:n.2129-406G>T
NM_001193640.1:c.2995G>T	NP_001180569.1:p.Glu999Ter
NM_001257965.1:c.3259G>T	NP_001244894.1:p.Glu1087Ter
NM_001257966.1:c.2129-406G>T	NP_001244895.1:n.2129-406G>T
NM_201253.2:c.3331G>T	NP_957705.1:p.Glu1111Ter
NR_047563.1:n.3332G>T
NR_047564.1:n.3540G>T
XM_011509365.1:c.3331G>T	XP_011507667.1:p.Glu1111Ter
XM_011509366.1:c.3331G>T	XP_011507668.1:p.Glu1111Ter
XM_011509367.1:c.3331G>T	XP_011507669.1:p.Glu1111Ter
XM_011509368.1:c.2749G>T	XP_011507670.1:p.Glu917Ter
XM_011509369.1:c.1774G>T	XP_011507671.1:p.Glu592Ter
XM_011509365.2:c.3331G>T	XP_011507667.1:p.Glu1111Ter
XM_011509369.2:c.1774G>T	XP_011507671.1:p.Glu592Ter
XM_017000851.1:c.2488G>T	XP_016856340.1:p.Glu830Ter
XM_017000852.1:c.3466G>T	XP_016856341.1:p.Glu1156Ter
NM_201253.3:c.3331G>T MANE Select	NP_957705.1:p.Glu1111Ter
NM_001193640.2:c.2995G>T	NP_001180569.1:p.Glu999Ter
NM_001257965.2:c.3259G>T	NP_001244894.1:p.Glu1087Ter
NR_047563.2:n.3284G>T
NR_047564.2:n.3492G>T
NM_001257966.2:c.2129-406G>T	NP_001244895.1:n.2129-406G>T