Canonical Allele Identifier: CA1312545

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1556080
• ClinVar RCV Id: RCV002202169
• dbSNP Id: rs375396992
• ExAC: 1:197446841 G / A
• gnomAD v2: 1-197446841-G-A
• gnomAD v4: 1-197477711-G-A
• MyVariant Identifiers: chr1:g.197446841G>A (hg19) ; chr1:g.197477711G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477711G>A , CM000663.2:g.197477711G>A	GRCh38
NC_000001.10:g.197446841G>A , CM000663.1:g.197446841G>A	GRCh37
NC_000001.9:g.195713464G>A	NCBI36
NG_008483.1:g.214434G>A
NG_008483.2:g.281250G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4053G>A MANE Select	ENSP00000356370.3:p.Val1351=
ENST00000367399.6:c.3717G>A	ENSP00000356369.2:p.Val1239=
ENST00000367400.7:c.4053G>A	ENSP00000356370.3:p.Val1351=
ENST00000448952.1:c.287G>A	ENSP00000395407.1:n.287G>A
ENST00000484075.5:c.*164G>A	ENSP00000433932.1:n.*164G>A
ENST00000535699.5:c.3981G>A	ENSP00000438786.1:p.Val1327=
ENST00000538660.5:c.2445G>A	ENSP00000438091.1:p.Val815=
NM_001193640.1:c.3717G>A	NP_001180569.1:p.Val1239=
NM_001257965.1:c.3981G>A	NP_001244894.1:p.Val1327=
NM_001257966.1:c.2445G>A	NP_001244895.1:p.Val815=
NM_201253.2:c.4053G>A	NP_957705.1:p.Val1351=
NR_047563.1:n.4054G>A
NR_047564.1:n.4504G>A
XM_011509366.1:c.*158G>A	XP_011507668.1:n.*158G>A
XM_011509367.1:c.*32G>A	XP_011507669.1:n.*32G>A
XM_011509368.1:c.3471G>A	XP_011507670.1:p.Val1157=
XM_011509369.1:c.2496G>A	XP_011507671.1:p.Val832=
XM_011509369.2:c.2496G>A	XP_011507671.1:p.Val832=
XM_017000851.1:c.3210G>A	XP_016856340.1:p.Val1070=
XM_017000852.1:c.4188G>A	XP_016856341.1:p.Val1396=
NM_201253.3:c.4053G>A MANE Select	NP_957705.1:p.Val1351=
NM_001193640.2:c.3717G>A	NP_001180569.1:p.Val1239=
NM_001257965.2:c.3981G>A	NP_001244894.1:p.Val1327=
NR_047563.2:n.4006G>A
NR_047564.2:n.4456G>A
NM_001257966.2:c.2445G>A	NP_001244895.1:p.Val815=