Canonical Allele Identifier: CA422808985

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1528011
• ClinVar RCV Id: RCV002077390
• dbSNP Id: rs2125485328
• gnomAD v4: 1-197427941-A-C
• MyVariant Identifiers: chr1:g.197397071A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427941A>C , CM000663.2:g.197427941A>C	GRCh38
NC_000001.10:g.197397071A>C , CM000663.1:g.197397071A>C	GRCh37
NC_000001.9:g.195663694A>C	NCBI36
NG_008483.1:g.164664A>C
NG_008483.2:g.231480A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2616A>C MANE Select	ENSP00000356370.3:p.Ala872=
ENST00000638467.1:c.2616A>C	ENSP00000491102.1:p.Ala872=
ENST00000681519.1:c.1497A>C	ENSP00000505267.1:p.Ala499=
ENST00000367397.1:c.759A>C	ENSP00000356367.1:p.Ala253=
ENST00000367399.6:c.2280A>C	ENSP00000356369.2:p.Ala760=
ENST00000367400.7:c.2616A>C	ENSP00000356370.3:p.Ala872=
ENST00000484075.5:c.2616A>C	ENSP00000433932.1:p.Ala872=
ENST00000535699.5:c.2409A>C	ENSP00000438786.1:p.Ala803=
ENST00000538660.5:c.2128+5985A>C	ENSP00000438091.1:n.2128+5985A>C
NM_001193640.1:c.2280A>C	NP_001180569.1:p.Ala760=
NM_001257965.1:c.2409A>C	NP_001244894.1:p.Ala803=
NM_001257966.1:c.2128+5985A>C	NP_001244895.1:n.2128+5985A>C
NM_201253.2:c.2616A>C	NP_957705.1:p.Ala872=
NR_047563.1:n.2617A>C
NR_047564.1:n.2825A>C
XM_011509365.1:c.2616A>C	XP_011507667.1:p.Ala872=
XM_011509366.1:c.2616A>C	XP_011507668.1:p.Ala872=
XM_011509367.1:c.2616A>C	XP_011507669.1:p.Ala872=
XM_011509368.1:c.2034A>C	XP_011507670.1:p.Ala678=
XM_011509369.1:c.1059A>C	XP_011507671.1:p.Ala353=
XM_011509365.2:c.2616A>C	XP_011507667.1:p.Ala872=
XM_011509369.2:c.1059A>C	XP_011507671.1:p.Ala353=
XM_017000851.1:c.1773A>C	XP_016856340.1:p.Ala591=
XM_017000852.1:c.2616A>C	XP_016856341.1:p.Ala872=
NM_201253.3:c.2616A>C MANE Select	NP_957705.1:p.Ala872=
NM_001193640.2:c.2280A>C	NP_001180569.1:p.Ala760=
NM_001257965.2:c.2409A>C	NP_001244894.1:p.Ala803=
NR_047563.2:n.2569A>C
NR_047564.2:n.2777A>C
NM_001257966.2:c.2128+5985A>C	NP_001244895.1:n.2128+5985A>C