Canonical Allele Identifier: CA1312261

Gene: CRB1

Linked Data

• dbSNP Id: rs747455011
• ExAC: 1:197404013 G / T
• gnomAD v2: 1-197404013-G-T
• gnomAD v4: 1-197434883-G-T
• MyVariant Identifiers: chr1:g.197404013G>T (hg19) ; chr1:g.197434883G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434883G>T , CM000663.2:g.197434883G>T	GRCh38
NC_000001.10:g.197404013G>T , CM000663.1:g.197404013G>T	GRCh37
NC_000001.9:g.195670636G>T	NCBI36
NG_008483.1:g.171606G>T
NG_008483.2:g.238422G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3020G>T MANE Select	ENSP00000356370.3:p.Arg1007Ile
ENST00000638467.1:c.3020G>T	ENSP00000491102.1:p.Arg1007Ile
ENST00000681519.1:c.1901G>T	ENSP00000505267.1:p.Arg634Ile
ENST00000367397.1:c.1163G>T	ENSP00000356367.1:p.Arg388Ile
ENST00000367399.6:c.2684G>T	ENSP00000356369.2:p.Arg895Ile
ENST00000367400.7:c.3020G>T	ENSP00000356370.3:p.Arg1007Ile
ENST00000484075.5:c.3020G>T	ENSP00000433932.1:p.Arg1007Ile
ENST00000535699.5:c.2948G>T	ENSP00000438786.1:p.Arg983Ile
ENST00000538660.5:c.2129-717G>T	ENSP00000438091.1:n.2129-717G>T
NM_001193640.1:c.2684G>T	NP_001180569.1:p.Arg895Ile
NM_001257965.1:c.2948G>T	NP_001244894.1:p.Arg983Ile
NM_001257966.1:c.2129-717G>T	NP_001244895.1:n.2129-717G>T
NM_201253.2:c.3020G>T	NP_957705.1:p.Arg1007Ile
NR_047563.1:n.3021G>T
NR_047564.1:n.3229G>T
XM_011509365.1:c.3020G>T	XP_011507667.1:p.Arg1007Ile
XM_011509366.1:c.3020G>T	XP_011507668.1:p.Arg1007Ile
XM_011509367.1:c.3020G>T	XP_011507669.1:p.Arg1007Ile
XM_011509368.1:c.2438G>T	XP_011507670.1:p.Arg813Ile
XM_011509369.1:c.1463G>T	XP_011507671.1:p.Arg488Ile
XM_011509365.2:c.3020G>T	XP_011507667.1:p.Arg1007Ile
XM_011509369.2:c.1463G>T	XP_011507671.1:p.Arg488Ile
XM_017000851.1:c.2177G>T	XP_016856340.1:p.Arg726Ile
XM_017000852.1:c.3155G>T	XP_016856341.1:p.Arg1052Ile
NM_201253.3:c.3020G>T MANE Select	NP_957705.1:p.Arg1007Ile
NM_001193640.2:c.2684G>T	NP_001180569.1:p.Arg895Ile
NM_001257965.2:c.2948G>T	NP_001244894.1:p.Arg983Ile
NR_047563.2:n.2973G>T
NR_047564.2:n.3181G>T
NM_001257966.2:c.2129-717G>T	NP_001244895.1:n.2129-717G>T