Canonical Allele Identifier: CA344045514

Gene: CRB1

Linked Data

• ClinVar Variation Id: 867209
• ClinVar RCV Id: RCV001075831
• dbSNP Id: rs1426006136
• gnomAD v3: 1-197434964-G-A
• gnomAD v4: 1-197434964-G-A
• MyVariant Identifiers: chr1:g.197404094G>A (hg19) ; chr1:g.197434964G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434964G>A , CM000663.2:g.197434964G>A	GRCh38
NC_000001.10:g.197404094G>A , CM000663.1:g.197404094G>A	GRCh37
NC_000001.9:g.195670717G>A	NCBI36
NG_008483.1:g.171687G>A
NG_008483.2:g.238503G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3101G>A MANE Select	ENSP00000356370.3:p.Trp1034Ter
ENST00000638467.1:c.3101G>A	ENSP00000491102.1:p.Trp1034Ter
ENST00000681519.1:c.1982G>A	ENSP00000505267.1:p.Trp661Ter
ENST00000367397.1:c.1244G>A	ENSP00000356367.1:p.Trp415Ter
ENST00000367399.6:c.2765G>A	ENSP00000356369.2:p.Trp922Ter
ENST00000367400.7:c.3101G>A	ENSP00000356370.3:p.Trp1034Ter
ENST00000484075.5:c.3101G>A	ENSP00000433932.1:p.Trp1034Ter
ENST00000535699.5:c.3029G>A	ENSP00000438786.1:p.Trp1010Ter
ENST00000538660.5:c.2129-636G>A	ENSP00000438091.1:n.2129-636G>A
NM_001193640.1:c.2765G>A	NP_001180569.1:p.Trp922Ter
NM_001257965.1:c.3029G>A	NP_001244894.1:p.Trp1010Ter
NM_001257966.1:c.2129-636G>A	NP_001244895.1:n.2129-636G>A
NM_201253.2:c.3101G>A	NP_957705.1:p.Trp1034Ter
NR_047563.1:n.3102G>A
NR_047564.1:n.3310G>A
XM_011509365.1:c.3101G>A	XP_011507667.1:p.Trp1034Ter
XM_011509366.1:c.3101G>A	XP_011507668.1:p.Trp1034Ter
XM_011509367.1:c.3101G>A	XP_011507669.1:p.Trp1034Ter
XM_011509368.1:c.2519G>A	XP_011507670.1:p.Trp840Ter
XM_011509369.1:c.1544G>A	XP_011507671.1:p.Trp515Ter
XM_011509365.2:c.3101G>A	XP_011507667.1:p.Trp1034Ter
XM_011509369.2:c.1544G>A	XP_011507671.1:p.Trp515Ter
XM_017000851.1:c.2258G>A	XP_016856340.1:p.Trp753Ter
XM_017000852.1:c.3236G>A	XP_016856341.1:p.Trp1079Ter
NM_201253.3:c.3101G>A MANE Select	NP_957705.1:p.Trp1034Ter
NM_001193640.2:c.2765G>A	NP_001180569.1:p.Trp922Ter
NM_001257965.2:c.3029G>A	NP_001244894.1:p.Trp1010Ter
NR_047563.2:n.3054G>A
NR_047564.2:n.3262G>A
NM_001257966.2:c.2129-636G>A	NP_001244895.1:n.2129-636G>A