Canonical Allele Identifier: CA1312123

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1089401
• ClinVar RCV Id: RCV001408210
• dbSNP Id: rs375269970
• ExAC: 1:197396918 G / A
• gnomAD v2: 1-197396918-G-A
• gnomAD v3: 1-197427788-G-A
• gnomAD v4: 1-197427788-G-A
• COSMIC: COSM1560356
• MyVariant Identifiers: chr1:g.197396918G>A (hg19) ; chr1:g.197427788G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427788G>A , CM000663.2:g.197427788G>A	GRCh38
NC_000001.10:g.197396918G>A , CM000663.1:g.197396918G>A	GRCh37
NC_000001.9:g.195663541G>A	NCBI36
NG_008483.1:g.164511G>A
NG_008483.2:g.231327G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2463G>A MANE Select	ENSP00000356370.3:p.Thr821=
ENST00000638467.1:c.2463G>A	ENSP00000491102.1:p.Thr821=
ENST00000681519.1:c.1344G>A	ENSP00000505267.1:p.Thr448=
ENST00000367397.1:c.606G>A	ENSP00000356367.1:p.Thr202=
ENST00000367399.6:c.2127G>A	ENSP00000356369.2:p.Thr709=
ENST00000367400.7:c.2463G>A	ENSP00000356370.3:p.Thr821=
ENST00000480086.2:n.364G>A
ENST00000484075.5:c.2463G>A	ENSP00000433932.1:p.Thr821=
ENST00000535699.5:c.2256G>A	ENSP00000438786.1:p.Thr752=
ENST00000538660.5:c.2128+5832G>A	ENSP00000438091.1:n.2128+5832G>A
NM_001193640.1:c.2127G>A	NP_001180569.1:p.Thr709=
NM_001257965.1:c.2256G>A	NP_001244894.1:p.Thr752=
NM_001257966.1:c.2128+5832G>A	NP_001244895.1:n.2128+5832G>A
NM_201253.2:c.2463G>A	NP_957705.1:p.Thr821=
NR_047563.1:n.2464G>A
NR_047564.1:n.2672G>A
XM_011509365.1:c.2463G>A	XP_011507667.1:p.Thr821=
XM_011509366.1:c.2463G>A	XP_011507668.1:p.Thr821=
XM_011509367.1:c.2463G>A	XP_011507669.1:p.Thr821=
XM_011509368.1:c.1881G>A	XP_011507670.1:p.Thr627=
XM_011509369.1:c.906G>A	XP_011507671.1:p.Thr302=
XM_011509365.2:c.2463G>A	XP_011507667.1:p.Thr821=
XM_011509369.2:c.906G>A	XP_011507671.1:p.Thr302=
XM_017000851.1:c.1620G>A	XP_016856340.1:p.Thr540=
XM_017000852.1:c.2463G>A	XP_016856341.1:p.Thr821=
NM_201253.3:c.2463G>A MANE Select	NP_957705.1:p.Thr821=
NM_001193640.2:c.2127G>A	NP_001180569.1:p.Thr709=
NM_001257965.2:c.2256G>A	NP_001244894.1:p.Thr752=
NR_047563.2:n.2416G>A
NR_047564.2:n.2624G>A
NM_001257966.2:c.2128+5832G>A	NP_001244895.1:n.2128+5832G>A