Canonical Allele Identifier: CA1312542

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1052285
• ClinVar RCV Id: RCV001360437 ; RCV001831201
• dbSNP Id: rs774187022
• ExAC: 1:197446831 T / C
• gnomAD v2: 1-197446831-T-C
• gnomAD v4: 1-197477701-T-C
• MyVariant Identifiers: chr1:g.197446831T>C (hg19) ; chr1:g.197477701T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477701T>C , CM000663.2:g.197477701T>C	GRCh38
NC_000001.10:g.197446831T>C , CM000663.1:g.197446831T>C	GRCh37
NC_000001.9:g.195713454T>C	NCBI36
NG_008483.1:g.214424T>C
NG_008483.2:g.281240T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4043T>C MANE Select	ENSP00000356370.3:p.Ile1348Thr
ENST00000367399.6:c.3707T>C	ENSP00000356369.2:p.Ile1236Thr
ENST00000367400.7:c.4043T>C	ENSP00000356370.3:p.Ile1348Thr
ENST00000448952.1:c.277T>C	ENSP00000395407.1:n.277T>C
ENST00000484075.5:c.*154T>C	ENSP00000433932.1:n.*154T>C
ENST00000535699.5:c.3971T>C	ENSP00000438786.1:p.Ile1324Thr
ENST00000538660.5:c.2435T>C	ENSP00000438091.1:p.Ile812Thr
NM_001193640.1:c.3707T>C	NP_001180569.1:p.Ile1236Thr
NM_001257965.1:c.3971T>C	NP_001244894.1:p.Ile1324Thr
NM_001257966.1:c.2435T>C	NP_001244895.1:p.Ile812Thr
NM_201253.2:c.4043T>C	NP_957705.1:p.Ile1348Thr
NR_047563.1:n.4044T>C
NR_047564.1:n.4494T>C
XM_011509366.1:c.*148T>C	XP_011507668.1:n.*148T>C
XM_011509367.1:c.*22T>C	XP_011507669.1:n.*22T>C
XM_011509368.1:c.3461T>C	XP_011507670.1:p.Ile1154Thr
XM_011509369.1:c.2486T>C	XP_011507671.1:p.Ile829Thr
XM_011509369.2:c.2486T>C	XP_011507671.1:p.Ile829Thr
XM_017000851.1:c.3200T>C	XP_016856340.1:p.Ile1067Thr
XM_017000852.1:c.4178T>C	XP_016856341.1:p.Ile1393Thr
NM_201253.3:c.4043T>C MANE Select	NP_957705.1:p.Ile1348Thr
NM_001193640.2:c.3707T>C	NP_001180569.1:p.Ile1236Thr
NM_001257965.2:c.3971T>C	NP_001244894.1:p.Ile1324Thr
NR_047563.2:n.3996T>C
NR_047564.2:n.4446T>C
NM_001257966.2:c.2435T>C	NP_001244895.1:p.Ile812Thr