Canonical Allele Identifier: CA344046970

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1520611
• ClinVar RCV Id: RCV002030851
• dbSNP Id: rs1402562231
• gnomAD v2: 1-197404267-G-A
• gnomAD v4: 1-197435137-G-A
• MyVariant Identifiers: chr1:g.197404267G>A (hg19) ; chr1:g.197435137G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435137G>A , CM000663.2:g.197435137G>A	GRCh38
NC_000001.10:g.197404267G>A , CM000663.1:g.197404267G>A	GRCh37
NC_000001.9:g.195670890G>A	NCBI36
NG_008483.1:g.171860G>A
NG_008483.2:g.238676G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3274G>A MANE Select	ENSP00000356370.3:p.Gly1092Ser
ENST00000638467.1:c.3274G>A	ENSP00000491102.1:p.Gly1092Ser
ENST00000681519.1:c.2155G>A	ENSP00000505267.1:p.Gly719Ser
ENST00000367397.1:c.1417G>A	ENSP00000356367.1:p.Gly473Ser
ENST00000367399.6:c.2938G>A	ENSP00000356369.2:p.Gly980Ser
ENST00000367400.7:c.3274G>A	ENSP00000356370.3:p.Gly1092Ser
ENST00000484075.5:c.3274G>A	ENSP00000433932.1:p.Gly1092Ser
ENST00000535699.5:c.3202G>A	ENSP00000438786.1:p.Gly1068Ser
ENST00000538660.5:c.2129-463G>A	ENSP00000438091.1:n.2129-463G>A
NM_001193640.1:c.2938G>A	NP_001180569.1:p.Gly980Ser
NM_001257965.1:c.3202G>A	NP_001244894.1:p.Gly1068Ser
NM_001257966.1:c.2129-463G>A	NP_001244895.1:n.2129-463G>A
NM_201253.2:c.3274G>A	NP_957705.1:p.Gly1092Ser
NR_047563.1:n.3275G>A
NR_047564.1:n.3483G>A
XM_011509365.1:c.3274G>A	XP_011507667.1:p.Gly1092Ser
XM_011509366.1:c.3274G>A	XP_011507668.1:p.Gly1092Ser
XM_011509367.1:c.3274G>A	XP_011507669.1:p.Gly1092Ser
XM_011509368.1:c.2692G>A	XP_011507670.1:p.Gly898Ser
XM_011509369.1:c.1717G>A	XP_011507671.1:p.Gly573Ser
XM_011509365.2:c.3274G>A	XP_011507667.1:p.Gly1092Ser
XM_011509369.2:c.1717G>A	XP_011507671.1:p.Gly573Ser
XM_017000851.1:c.2431G>A	XP_016856340.1:p.Gly811Ser
XM_017000852.1:c.3409G>A	XP_016856341.1:p.Gly1137Ser
NM_201253.3:c.3274G>A MANE Select	NP_957705.1:p.Gly1092Ser
NM_001193640.2:c.2938G>A	NP_001180569.1:p.Gly980Ser
NM_001257965.2:c.3202G>A	NP_001244894.1:p.Gly1068Ser
NR_047563.2:n.3227G>A
NR_047564.2:n.3435G>A
NM_001257966.2:c.2129-463G>A	NP_001244895.1:n.2129-463G>A