Canonical Allele Identifier: CA228028

Gene: CRB1

Linked Data

• ClinVar Variation Id: 5731
• ClinVar RCV Id: RCV000006085 ; RCV000086334
• dbSNP Id: rs62635655
• MyVariant Identifiers: chr1:g.197403976G>T (hg19) ; chr1:g.197434846G>T (hg38)
• PubMed: PMID:10508521

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434846G>T , CM000663.2:g.197434846G>T	GRCh38
NC_000001.10:g.197403976G>T , CM000663.1:g.197403976G>T	GRCh37
NC_000001.9:g.195670599G>T	NCBI36
NG_008483.1:g.171569G>T
NG_008483.2:g.238385G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2983G>T MANE Select	ENSP00000356370.3:p.Glu995Ter
ENST00000638467.1:c.2983G>T	ENSP00000491102.1:p.Glu995Ter
ENST00000681519.1:c.1864G>T	ENSP00000505267.1:p.Glu622Ter
ENST00000367397.1:c.1126G>T	ENSP00000356367.1:p.Glu376Ter
ENST00000367399.6:c.2647G>T	ENSP00000356369.2:p.Glu883Ter
ENST00000367400.7:c.2983G>T	ENSP00000356370.3:p.Glu995Ter
ENST00000484075.5:c.2983G>T	ENSP00000433932.1:p.Glu995Ter
ENST00000535699.5:c.2911G>T	ENSP00000438786.1:p.Glu971Ter
ENST00000538660.5:c.2129-754G>T	ENSP00000438091.1:n.2129-754G>T
NM_001193640.1:c.2647G>T	NP_001180569.1:p.Glu883Ter
NM_001257965.1:c.2911G>T	NP_001244894.1:p.Glu971Ter
NM_001257966.1:c.2129-754G>T	NP_001244895.1:n.2129-754G>T
NM_201253.2:c.2983G>T	NP_957705.1:p.Glu995Ter
NR_047563.1:n.2984G>T
NR_047564.1:n.3192G>T
XM_011509365.1:c.2983G>T	XP_011507667.1:p.Glu995Ter
XM_011509366.1:c.2983G>T	XP_011507668.1:p.Glu995Ter
XM_011509367.1:c.2983G>T	XP_011507669.1:p.Glu995Ter
XM_011509368.1:c.2401G>T	XP_011507670.1:p.Glu801Ter
XM_011509369.1:c.1426G>T	XP_011507671.1:p.Glu476Ter
XM_011509365.2:c.2983G>T	XP_011507667.1:p.Glu995Ter
XM_011509369.2:c.1426G>T	XP_011507671.1:p.Glu476Ter
XM_017000851.1:c.2140G>T	XP_016856340.1:p.Glu714Ter
XM_017000852.1:c.3118G>T	XP_016856341.1:p.Glu1040Ter
NM_201253.3:c.2983G>T MANE Select	NP_957705.1:p.Glu995Ter
NM_001193640.2:c.2647G>T	NP_001180569.1:p.Glu883Ter
NM_001257965.2:c.2911G>T	NP_001244894.1:p.Glu971Ter
NR_047563.2:n.2936G>T
NR_047564.2:n.3144G>T
NM_001257966.2:c.2129-754G>T	NP_001244895.1:n.2129-754G>T