Canonical Allele Identifier: CA344035948

Gene: CRB1

Linked Data

• dbSNP Id: rs1282153271
• gnomAD v2: 1-197446969-G-A
• MyVariant Identifiers: chr1:g.197446969G>A (hg19) ; chr1:g.197477839G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477839G>A , CM000663.2:g.197477839G>A	GRCh38
NC_000001.10:g.197446969G>A , CM000663.1:g.197446969G>A	GRCh37
NC_000001.9:g.195713592G>A	NCBI36
NG_008483.1:g.214562G>A
NG_008483.2:g.281378G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4181G>A MANE Select	ENSP00000356370.3:p.Trp1394Ter
ENST00000367399.6:c.3845G>A	ENSP00000356369.2:p.Trp1282Ter
ENST00000367400.7:c.4181G>A	ENSP00000356370.3:p.Trp1394Ter
ENST00000448952.1:c.415G>A	ENSP00000395407.1:n.415G>A
ENST00000484075.5:c.*292G>A	ENSP00000433932.1:n.*292G>A
ENST00000535699.5:c.4109G>A	ENSP00000438786.1:p.Trp1370Ter
ENST00000538660.5:c.2573G>A	ENSP00000438091.1:p.Trp858Ter
NM_001193640.1:c.3845G>A	NP_001180569.1:p.Trp1282Ter
NM_001257965.1:c.4109G>A	NP_001244894.1:p.Trp1370Ter
NM_001257966.1:c.2573G>A	NP_001244895.1:p.Trp858Ter
NM_201253.2:c.4181G>A	NP_957705.1:p.Trp1394Ter
NR_047563.1:n.4182G>A
NR_047564.1:n.4632G>A
XM_011509366.1:c.*286G>A	XP_011507668.1:n.*286G>A
XM_011509367.1:c.*160G>A	XP_011507669.1:n.*160G>A
XM_011509368.1:c.3599G>A	XP_011507670.1:p.Trp1200Ter
XM_011509369.1:c.2624G>A	XP_011507671.1:p.Trp875Ter
XM_011509369.2:c.2624G>A	XP_011507671.1:p.Trp875Ter
XM_017000851.1:c.3338G>A	XP_016856340.1:p.Trp1113Ter
XM_017000852.1:c.4316G>A	XP_016856341.1:p.Trp1439Ter
NM_201253.3:c.4181G>A MANE Select	NP_957705.1:p.Trp1394Ter
NM_001193640.2:c.3845G>A	NP_001180569.1:p.Trp1282Ter
NM_001257965.2:c.4109G>A	NP_001244894.1:p.Trp1370Ter
NR_047563.2:n.4134G>A
NR_047564.2:n.4584G>A
NM_001257966.2:c.2573G>A	NP_001244895.1:p.Trp858Ter