Canonical Allele Identifier: CA35895675

Gene: CRB1

Linked Data

• dbSNP Id: rs200670424
• gnomAD v4: 1-197477715-G-A
• MyVariant Identifiers: chr1:g.197446845G>A (hg19) ; chr1:g.197477715G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477715G>A , CM000663.2:g.197477715G>A	GRCh38
NC_000001.10:g.197446845G>A , CM000663.1:g.197446845G>A	GRCh37
NC_000001.9:g.195713468G>A	NCBI36
NG_008483.1:g.214438G>A
NG_008483.2:g.281254G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4057G>A MANE Select	ENSP00000356370.3:p.Val1353Ile
ENST00000367399.6:c.3721G>A	ENSP00000356369.2:p.Val1241Ile
ENST00000367400.7:c.4057G>A	ENSP00000356370.3:p.Val1353Ile
ENST00000448952.1:c.291G>A	ENSP00000395407.1:n.291G>A
ENST00000484075.5:c.*168G>A	ENSP00000433932.1:n.*168G>A
ENST00000535699.5:c.3985G>A	ENSP00000438786.1:p.Val1329Ile
ENST00000538660.5:c.2449G>A	ENSP00000438091.1:p.Val817Ile
NM_001193640.1:c.3721G>A	NP_001180569.1:p.Val1241Ile
NM_001257965.1:c.3985G>A	NP_001244894.1:p.Val1329Ile
NM_001257966.1:c.2449G>A	NP_001244895.1:p.Val817Ile
NM_201253.2:c.4057G>A	NP_957705.1:p.Val1353Ile
NR_047563.1:n.4058G>A
NR_047564.1:n.4508G>A
XM_011509366.1:c.*162G>A	XP_011507668.1:n.*162G>A
XM_011509367.1:c.*36G>A	XP_011507669.1:n.*36G>A
XM_011509368.1:c.3475G>A	XP_011507670.1:p.Val1159Ile
XM_011509369.1:c.2500G>A	XP_011507671.1:p.Val834Ile
XM_011509369.2:c.2500G>A	XP_011507671.1:p.Val834Ile
XM_017000851.1:c.3214G>A	XP_016856340.1:p.Val1072Ile
XM_017000852.1:c.4192G>A	XP_016856341.1:p.Val1398Ile
NM_201253.3:c.4057G>A MANE Select	NP_957705.1:p.Val1353Ile
NM_001193640.2:c.3721G>A	NP_001180569.1:p.Val1241Ile
NM_001257965.2:c.3985G>A	NP_001244894.1:p.Val1329Ile
NR_047563.2:n.4010G>A
NR_047564.2:n.4460G>A
NM_001257966.2:c.2449G>A	NP_001244895.1:p.Val817Ile