Canonical Allele Identifier: CA35896078

Gene: CRB1

Linked Data

• dbSNP Id: rs968935728
• gnomAD v3: 1-197478055-G-T
• gnomAD v4: 1-197478055-G-T
• MyVariant Identifiers: chr1:g.197447185G>T (hg19) ; chr1:g.197478055G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197478055G>T , CM000663.2:g.197478055G>T	GRCh38
NC_000001.10:g.197447185G>T , CM000663.1:g.197447185G>T	GRCh37
NC_000001.9:g.195713808G>T	NCBI36
NG_008483.1:g.214778G>T
NG_008483.2:g.281594G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*176G>T MANE Select	ENSP00000356370.3:n.*176G>T
ENST00000367400.7:c.*176G>T	ENSP00000356370.3:n.*176G>T
ENST00000448952.1:c.631G>T	ENSP00000395407.1:n.631G>T
ENST00000484075.5:c.*508G>T	ENSP00000433932.1:n.*508G>T
ENST00000535699.5:c.*176G>T	ENSP00000438786.1:n.*176G>T
ENST00000538660.5:c.*176G>T	ENSP00000438091.1:n.*176G>T
NM_001193640.1:c.*176G>T	NP_001180569.1:n.*176G>T
NM_001257965.1:c.*176G>T	NP_001244894.1:n.*176G>T
NM_001257966.1:c.*176G>T	NP_001244895.1:n.*176G>T
NM_201253.2:c.*176G>T	NP_957705.1:n.*176G>T
NR_047563.1:n.4398G>T
NR_047564.1:n.4848G>T
XM_011509366.1:c.*502G>T	XP_011507668.1:n.*502G>T
XM_011509367.1:c.*376G>T	XP_011507669.1:n.*376G>T
XM_011509368.1:c.*176G>T	XP_011507670.1:n.*176G>T
XM_011509369.1:c.*176G>T	XP_011507671.1:n.*176G>T
XM_011509369.2:c.*176G>T	XP_011507671.1:n.*176G>T
XM_017000851.1:c.*176G>T	XP_016856340.1:n.*176G>T
XM_017000852.1:c.*176G>T	XP_016856341.1:n.*176G>T
NM_201253.3:c.*176G>T MANE Select	NP_957705.1:n.*176G>T
NM_001193640.2:c.*176G>T	NP_001180569.1:n.*176G>T
NM_001257965.2:c.*176G>T	NP_001244894.1:n.*176G>T
NR_047563.2:n.4350G>T
NR_047564.2:n.4800G>T
NM_001257966.2:c.*176G>T	NP_001244895.1:n.*176G>T