Canonical Allele Identifier: CA10581632

Gene: CRB1

Linked Data

• ClinVar Variation Id: 236473
• ClinVar RCV Id: RCV000225544 ; RCV002519764
• dbSNP Id: rs878853367
• gnomAD v3: 1-197434880-C-T
• gnomAD v4: 1-197434880-C-T
• COSMIC: COSM5917115 ; COSM5917116
• MyVariant Identifiers: chr1:g.197404010C>T (hg19) ; chr1:g.197434880C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434880C>T , CM000663.2:g.197434880C>T	GRCh38
NC_000001.10:g.197404010C>T , CM000663.1:g.197404010C>T	GRCh37
NC_000001.9:g.195670633C>T	NCBI36
NG_008483.1:g.171603C>T
NG_008483.2:g.238419C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3017C>T MANE Select	ENSP00000356370.3:p.Ser1006Phe
ENST00000638467.1:c.3017C>T	ENSP00000491102.1:p.Ser1006Phe
ENST00000681519.1:c.1898C>T	ENSP00000505267.1:p.Ser633Phe
ENST00000367397.1:c.1160C>T	ENSP00000356367.1:p.Ser387Phe
ENST00000367399.6:c.2681C>T	ENSP00000356369.2:p.Ser894Phe
ENST00000367400.7:c.3017C>T	ENSP00000356370.3:p.Ser1006Phe
ENST00000484075.5:c.3017C>T	ENSP00000433932.1:p.Ser1006Phe
ENST00000535699.5:c.2945C>T	ENSP00000438786.1:p.Ser982Phe
ENST00000538660.5:c.2129-720C>T	ENSP00000438091.1:n.2129-720C>T
NM_001193640.1:c.2681C>T	NP_001180569.1:p.Ser894Phe
NM_001257965.1:c.2945C>T	NP_001244894.1:p.Ser982Phe
NM_001257966.1:c.2129-720C>T	NP_001244895.1:n.2129-720C>T
NM_201253.2:c.3017C>T	NP_957705.1:p.Ser1006Phe
NR_047563.1:n.3018C>T
NR_047564.1:n.3226C>T
XM_011509365.1:c.3017C>T	XP_011507667.1:p.Ser1006Phe
XM_011509366.1:c.3017C>T	XP_011507668.1:p.Ser1006Phe
XM_011509367.1:c.3017C>T	XP_011507669.1:p.Ser1006Phe
XM_011509368.1:c.2435C>T	XP_011507670.1:p.Ser812Phe
XM_011509369.1:c.1460C>T	XP_011507671.1:p.Ser487Phe
XM_011509365.2:c.3017C>T	XP_011507667.1:p.Ser1006Phe
XM_011509369.2:c.1460C>T	XP_011507671.1:p.Ser487Phe
XM_017000851.1:c.2174C>T	XP_016856340.1:p.Ser725Phe
XM_017000852.1:c.3152C>T	XP_016856341.1:p.Ser1051Phe
NM_201253.3:c.3017C>T MANE Select	NP_957705.1:p.Ser1006Phe
NM_001193640.2:c.2681C>T	NP_001180569.1:p.Ser894Phe
NM_001257965.2:c.2945C>T	NP_001244894.1:p.Ser982Phe
NR_047563.2:n.2970C>T
NR_047564.2:n.3178C>T
NM_001257966.2:c.2129-720C>T	NP_001244895.1:n.2129-720C>T