Canonical Allele Identifier: CA1312325

Gene: CRB1

Linked Data

• ClinVar Variation Id: 966717
• ClinVar RCV Id: RCV001241461 ; RCV001835104
• dbSNP Id: rs763011436
• ExAC: 1:197404379 C / T
• gnomAD v2: 1-197404379-C-T
• gnomAD v4: 1-197435249-C-T
• MyVariant Identifiers: chr1:g.197404379C>T (hg19) ; chr1:g.197435249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435249C>T , CM000663.2:g.197435249C>T	GRCh38
NC_000001.10:g.197404379C>T , CM000663.1:g.197404379C>T	GRCh37
NC_000001.9:g.195671002C>T	NCBI36
NG_008483.1:g.171972C>T
NG_008483.2:g.238788C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3386C>T MANE Select	ENSP00000356370.3:p.Ser1129Phe
ENST00000638467.1:c.3386C>T	ENSP00000491102.1:p.Ser1129Phe
ENST00000681519.1:c.2267C>T	ENSP00000505267.1:p.Ser756Phe
ENST00000367397.1:c.1529C>T	ENSP00000356367.1:p.Ser510Phe
ENST00000367399.6:c.3050C>T	ENSP00000356369.2:p.Ser1017Phe
ENST00000367400.7:c.3386C>T	ENSP00000356370.3:p.Ser1129Phe
ENST00000484075.5:c.3386C>T	ENSP00000433932.1:p.Ser1129Phe
ENST00000535699.5:c.3314C>T	ENSP00000438786.1:p.Ser1105Phe
ENST00000538660.5:c.2129-351C>T	ENSP00000438091.1:n.2129-351C>T
NM_001193640.1:c.3050C>T	NP_001180569.1:p.Ser1017Phe
NM_001257965.1:c.3314C>T	NP_001244894.1:p.Ser1105Phe
NM_001257966.1:c.2129-351C>T	NP_001244895.1:n.2129-351C>T
NM_201253.2:c.3386C>T	NP_957705.1:p.Ser1129Phe
NR_047563.1:n.3387C>T
NR_047564.1:n.3595C>T
XM_011509365.1:c.3386C>T	XP_011507667.1:p.Ser1129Phe
XM_011509366.1:c.3386C>T	XP_011507668.1:p.Ser1129Phe
XM_011509367.1:c.3386C>T	XP_011507669.1:p.Ser1129Phe
XM_011509368.1:c.2804C>T	XP_011507670.1:p.Ser935Phe
XM_011509369.1:c.1829C>T	XP_011507671.1:p.Ser610Phe
XM_011509365.2:c.3386C>T	XP_011507667.1:p.Ser1129Phe
XM_011509369.2:c.1829C>T	XP_011507671.1:p.Ser610Phe
XM_017000851.1:c.2543C>T	XP_016856340.1:p.Ser848Phe
XM_017000852.1:c.3521C>T	XP_016856341.1:p.Ser1174Phe
NM_201253.3:c.3386C>T MANE Select	NP_957705.1:p.Ser1129Phe
NM_001193640.2:c.3050C>T	NP_001180569.1:p.Ser1017Phe
NM_001257965.2:c.3314C>T	NP_001244894.1:p.Ser1105Phe
NR_047563.2:n.3339C>T
NR_047564.2:n.3547C>T
NM_001257966.2:c.2129-351C>T	NP_001244895.1:n.2129-351C>T