Canonical Allele Identifier: CA422677630

Gene: CRB1

Linked Data

• dbSNP Id: rs1198946827
• gnomAD v2: 1-197447009-G-A
• gnomAD v4: 1-197477879-G-A
• MyVariant Identifiers: chr1:g.197447009G>A (hg19) ; chr1:g.197477879G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477879G>A , CM000663.2:g.197477879G>A	GRCh38
NC_000001.10:g.197447009G>A , CM000663.1:g.197447009G>A	GRCh37
NC_000001.9:g.195713632G>A	NCBI36
NG_008483.1:g.214602G>A
NG_008483.2:g.281418G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4221G>A MANE Select	ENSP00000356370.3:p.Ter1407=
ENST00000367399.6:c.3885G>A	ENSP00000356369.2:p.Ter1295=
ENST00000367400.7:c.4221G>A	ENSP00000356370.3:p.Ter1407=
ENST00000448952.1:c.455G>A	ENSP00000395407.1:n.455G>A
ENST00000484075.5:c.*332G>A	ENSP00000433932.1:n.*332G>A
ENST00000535699.5:c.4149G>A	ENSP00000438786.1:p.Ter1383=
ENST00000538660.5:c.2613G>A	ENSP00000438091.1:p.Ter871=
NM_001193640.1:c.3885G>A	NP_001180569.1:p.Ter1295=
NM_001257965.1:c.4149G>A	NP_001244894.1:p.Ter1383=
NM_001257966.1:c.2613G>A	NP_001244895.1:p.Ter871=
NM_201253.2:c.4221G>A	NP_957705.1:p.Ter1407=
NR_047563.1:n.4222G>A
NR_047564.1:n.4672G>A
XM_011509366.1:c.*326G>A	XP_011507668.1:n.*326G>A
XM_011509367.1:c.*200G>A	XP_011507669.1:n.*200G>A
XM_011509368.1:c.3639G>A	XP_011507670.1:p.Ter1213=
XM_011509369.1:c.2664G>A	XP_011507671.1:p.Ter888=
XM_011509369.2:c.2664G>A	XP_011507671.1:p.Ter888=
XM_017000851.1:c.3378G>A	XP_016856340.1:p.Ter1126=
XM_017000852.1:c.4356G>A	XP_016856341.1:p.Ter1452=
NM_201253.3:c.4221G>A MANE Select	NP_957705.1:p.Ter1407=
NM_001193640.2:c.3885G>A	NP_001180569.1:p.Ter1295=
NM_001257965.2:c.4149G>A	NP_001244894.1:p.Ter1383=
NR_047563.2:n.4174G>A
NR_047564.2:n.4624G>A
NM_001257966.2:c.2613G>A	NP_001244895.1:p.Ter871=