Canonical Allele Identifier: CA1312567

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1444583
• ClinVar RCV Id: RCV001982490
• dbSNP Id: rs765740058
• ExAC: 1:197446951 G / T
• gnomAD v2: 1-197446951-G-T
• gnomAD v3: 1-197477821-G-T
• gnomAD v4: 1-197477821-G-T
• MyVariant Identifiers: chr1:g.197446951G>T (hg19) ; chr1:g.197477821G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477821G>T , CM000663.2:g.197477821G>T	GRCh38
NC_000001.10:g.197446951G>T , CM000663.1:g.197446951G>T	GRCh37
NC_000001.9:g.195713574G>T	NCBI36
NG_008483.1:g.214544G>T
NG_008483.2:g.281360G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4163G>T MANE Select	ENSP00000356370.3:p.Gly1388Val
ENST00000367399.6:c.3827G>T	ENSP00000356369.2:p.Gly1276Val
ENST00000367400.7:c.4163G>T	ENSP00000356370.3:p.Gly1388Val
ENST00000448952.1:c.397G>T	ENSP00000395407.1:n.397G>T
ENST00000484075.5:c.*274G>T	ENSP00000433932.1:n.*274G>T
ENST00000535699.5:c.4091G>T	ENSP00000438786.1:p.Gly1364Val
ENST00000538660.5:c.2555G>T	ENSP00000438091.1:p.Gly852Val
NM_001193640.1:c.3827G>T	NP_001180569.1:p.Gly1276Val
NM_001257965.1:c.4091G>T	NP_001244894.1:p.Gly1364Val
NM_001257966.1:c.2555G>T	NP_001244895.1:p.Gly852Val
NM_201253.2:c.4163G>T	NP_957705.1:p.Gly1388Val
NR_047563.1:n.4164G>T
NR_047564.1:n.4614G>T
XM_011509366.1:c.*268G>T	XP_011507668.1:n.*268G>T
XM_011509367.1:c.*142G>T	XP_011507669.1:n.*142G>T
XM_011509368.1:c.3581G>T	XP_011507670.1:p.Gly1194Val
XM_011509369.1:c.2606G>T	XP_011507671.1:p.Gly869Val
XM_011509369.2:c.2606G>T	XP_011507671.1:p.Gly869Val
XM_017000851.1:c.3320G>T	XP_016856340.1:p.Gly1107Val
XM_017000852.1:c.4298G>T	XP_016856341.1:p.Gly1433Val
NM_201253.3:c.4163G>T MANE Select	NP_957705.1:p.Gly1388Val
NM_001193640.2:c.3827G>T	NP_001180569.1:p.Gly1276Val
NM_001257965.2:c.4091G>T	NP_001244894.1:p.Gly1364Val
NR_047563.2:n.4116G>T
NR_047564.2:n.4566G>T
NM_001257966.2:c.2555G>T	NP_001244895.1:p.Gly852Val