Canonical Allele Identifier: CA729749011

Gene: CRB1

Linked Data

• dbSNP Id: rs1429703525
• gnomAD v3: 1-197477944-T-A
• gnomAD v4: 1-197477944-T-A
• MyVariant Identifiers: chr1:g.197447074T>A (hg19) ; chr1:g.197477944T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477944T>A , CM000663.2:g.197477944T>A	GRCh38
NC_000001.10:g.197447074T>A , CM000663.1:g.197447074T>A	GRCh37
NC_000001.9:g.195713697T>A	NCBI36
NG_008483.1:g.214667T>A
NG_008483.2:g.281483T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*65T>A MANE Select	ENSP00000356370.3:n.*65T>A
ENST00000367400.7:c.*65T>A	ENSP00000356370.3:n.*65T>A
ENST00000448952.1:c.520T>A	ENSP00000395407.1:n.520T>A
ENST00000484075.5:c.*397T>A	ENSP00000433932.1:n.*397T>A
ENST00000535699.5:c.*65T>A	ENSP00000438786.1:n.*65T>A
ENST00000538660.5:c.*65T>A	ENSP00000438091.1:n.*65T>A
NM_001193640.1:c.*65T>A	NP_001180569.1:n.*65T>A
NM_001257965.1:c.*65T>A	NP_001244894.1:n.*65T>A
NM_001257966.1:c.*65T>A	NP_001244895.1:n.*65T>A
NM_201253.2:c.*65T>A	NP_957705.1:n.*65T>A
NR_047563.1:n.4287T>A
NR_047564.1:n.4737T>A
XM_011509366.1:c.*391T>A	XP_011507668.1:n.*391T>A
XM_011509367.1:c.*265T>A	XP_011507669.1:n.*265T>A
XM_011509368.1:c.*65T>A	XP_011507670.1:n.*65T>A
XM_011509369.1:c.*65T>A	XP_011507671.1:n.*65T>A
XM_011509369.2:c.*65T>A	XP_011507671.1:n.*65T>A
XM_017000851.1:c.*65T>A	XP_016856340.1:n.*65T>A
XM_017000852.1:c.*65T>A	XP_016856341.1:n.*65T>A
NM_201253.3:c.*65T>A MANE Select	NP_957705.1:n.*65T>A
NM_001193640.2:c.*65T>A	NP_001180569.1:n.*65T>A
NM_001257965.2:c.*65T>A	NP_001244894.1:n.*65T>A
NR_047563.2:n.4239T>A
NR_047564.2:n.4689T>A
NM_001257966.2:c.*65T>A	NP_001244895.1:n.*65T>A