Canonical Allele Identifier: CA1312548

Gene: CRB1

Linked Data

• ClinVar Variation Id: 971732
• ClinVar RCV Id: RCV001247579 ; RCV001262780 ; RCV001310548 ; RCV001836246 ; RCV003449796 ; RCV003449797
• dbSNP Id: rs200469148
• ExAC: 1:197446848 G / A
• gnomAD v2: 1-197446848-G-A
• gnomAD v3: 1-197477718-G-A
• gnomAD v4: 1-197477718-G-A
• MyVariant Identifiers: chr1:g.197446848G>A (hg19) ; chr1:g.197477718G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477718G>A , CM000663.2:g.197477718G>A	GRCh38
NC_000001.10:g.197446848G>A , CM000663.1:g.197446848G>A	GRCh37
NC_000001.9:g.195713471G>A	NCBI36
NG_008483.1:g.214441G>A
NG_008483.2:g.281257G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.4060G>A MANE Select	ENSP00000356370.3:p.Ala1354Thr
ENST00000367399.6:c.3724G>A	ENSP00000356369.2:p.Ala1242Thr
ENST00000367400.7:c.4060G>A	ENSP00000356370.3:p.Ala1354Thr
ENST00000448952.1:c.294G>A	ENSP00000395407.1:n.294G>A
ENST00000484075.5:c.*171G>A	ENSP00000433932.1:n.*171G>A
ENST00000535699.5:c.3988G>A	ENSP00000438786.1:p.Ala1330Thr
ENST00000538660.5:c.2452G>A	ENSP00000438091.1:p.Ala818Thr
NM_001193640.1:c.3724G>A	NP_001180569.1:p.Ala1242Thr
NM_001257965.1:c.3988G>A	NP_001244894.1:p.Ala1330Thr
NM_001257966.1:c.2452G>A	NP_001244895.1:p.Ala818Thr
NM_201253.2:c.4060G>A	NP_957705.1:p.Ala1354Thr
NR_047563.1:n.4061G>A
NR_047564.1:n.4511G>A
XM_011509366.1:c.*165G>A	XP_011507668.1:n.*165G>A
XM_011509367.1:c.*39G>A	XP_011507669.1:n.*39G>A
XM_011509368.1:c.3478G>A	XP_011507670.1:p.Ala1160Thr
XM_011509369.1:c.2503G>A	XP_011507671.1:p.Ala835Thr
XM_011509369.2:c.2503G>A	XP_011507671.1:p.Ala835Thr
XM_017000851.1:c.3217G>A	XP_016856340.1:p.Ala1073Thr
XM_017000852.1:c.4195G>A	XP_016856341.1:p.Ala1399Thr
NM_201253.3:c.4060G>A MANE Select	NP_957705.1:p.Ala1354Thr
NM_001193640.2:c.3724G>A	NP_001180569.1:p.Ala1242Thr
NM_001257965.2:c.3988G>A	NP_001244894.1:p.Ala1330Thr
NR_047563.2:n.4013G>A
NR_047564.2:n.4463G>A
NM_001257966.2:c.2452G>A	NP_001244895.1:p.Ala818Thr