Canonical Allele Identifier: CA247395

Gene: CRB1

Linked Data

• ClinVar Variation Id: 198633
• ClinVar RCV Id: RCV000488061 ; RCV001087243 ; RCV001376275 ; RCV001563786 ; RCV003888637
• dbSNP Id: rs142857810
• ExAC: 1:197396917 C / T
• gnomAD v2: 1-197396917-C-T
• gnomAD v3: 1-197427787-C-T
• gnomAD v4: 1-197427787-C-T
• MyVariant Identifiers: chr1:g.197396917C>T (hg19) ; chr1:g.197427787C>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427787C>T , CM000663.2:g.197427787C>T	GRCh38
NC_000001.10:g.197396917C>T , CM000663.1:g.197396917C>T	GRCh37
NC_000001.9:g.195663540C>T	NCBI36
NG_008483.1:g.164510C>T
NG_008483.2:g.231326C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2462C>T MANE Select	ENSP00000356370.3:p.Thr821Met
ENST00000638467.1:c.2462C>T	ENSP00000491102.1:p.Thr821Met
ENST00000681519.1:c.1343C>T	ENSP00000505267.1:p.Thr448Met
ENST00000367397.1:c.605C>T	ENSP00000356367.1:p.Thr202Met
ENST00000367399.6:c.2126C>T	ENSP00000356369.2:p.Thr709Met
ENST00000367400.7:c.2462C>T	ENSP00000356370.3:p.Thr821Met
ENST00000480086.2:n.363C>T
ENST00000484075.5:c.2462C>T	ENSP00000433932.1:p.Thr821Met
ENST00000535699.5:c.2255C>T	ENSP00000438786.1:p.Thr752Met
ENST00000538660.5:c.2128+5831C>T	ENSP00000438091.1:n.2128+5831C>T
NM_001193640.1:c.2126C>T	NP_001180569.1:p.Thr709Met
NM_001257965.1:c.2255C>T	NP_001244894.1:p.Thr752Met
NM_001257966.1:c.2128+5831C>T	NP_001244895.1:n.2128+5831C>T
NM_201253.2:c.2462C>T	NP_957705.1:p.Thr821Met
NR_047563.1:n.2463C>T
NR_047564.1:n.2671C>T
XM_011509365.1:c.2462C>T	XP_011507667.1:p.Thr821Met
XM_011509366.1:c.2462C>T	XP_011507668.1:p.Thr821Met
XM_011509367.1:c.2462C>T	XP_011507669.1:p.Thr821Met
XM_011509368.1:c.1880C>T	XP_011507670.1:p.Thr627Met
XM_011509369.1:c.905C>T	XP_011507671.1:p.Thr302Met
XM_011509365.2:c.2462C>T	XP_011507667.1:p.Thr821Met
XM_011509369.2:c.905C>T	XP_011507671.1:p.Thr302Met
XM_017000851.1:c.1619C>T	XP_016856340.1:p.Thr540Met
XM_017000852.1:c.2462C>T	XP_016856341.1:p.Thr821Met
NM_201253.3:c.2462C>T MANE Select	NP_957705.1:p.Thr821Met
NM_001193640.2:c.2126C>T	NP_001180569.1:p.Thr709Met
NM_001257965.2:c.2255C>T	NP_001244894.1:p.Thr752Met
NR_047563.2:n.2415C>T
NR_047564.2:n.2623C>T
NM_001257966.2:c.2128+5831C>T	NP_001244895.1:n.2128+5831C>T