Canonical Allele Identifier: CA344035458

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446821T>A (hg19) ; chr1:g.197477691T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477691T>A , CM000663.2:g.197477691T>A	GRCh38
NC_000001.10:g.197446821T>A , CM000663.1:g.197446821T>A	GRCh37
NC_000001.9:g.195713444T>A	NCBI36
NG_008483.1:g.214414T>A
NG_008483.2:g.281230T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4033T>A MANE Select	ENSP00000356370.3:p.Phe1345Ile
ENST00000367399.6:c.3697T>A	ENSP00000356369.2:p.Phe1233Ile
ENST00000367400.7:c.4033T>A	ENSP00000356370.3:p.Phe1345Ile
ENST00000448952.1:c.267T>A	ENSP00000395407.1:n.267T>A
ENST00000484075.5:c.*144T>A	ENSP00000433932.1:n.*144T>A
ENST00000535699.5:c.3961T>A	ENSP00000438786.1:p.Phe1321Ile
ENST00000538660.5:c.2425T>A	ENSP00000438091.1:p.Phe809Ile
NM_001193640.1:c.3697T>A	NP_001180569.1:p.Phe1233Ile
NM_001257965.1:c.3961T>A	NP_001244894.1:p.Phe1321Ile
NM_001257966.1:c.2425T>A	NP_001244895.1:p.Phe809Ile
NM_201253.2:c.4033T>A	NP_957705.1:p.Phe1345Ile
NR_047563.1:n.4034T>A
NR_047564.1:n.4484T>A
XM_011509366.1:c.*138T>A	XP_011507668.1:n.*138T>A
XM_011509367.1:c.*12T>A	XP_011507669.1:n.*12T>A
XM_011509368.1:c.3451T>A	XP_011507670.1:p.Phe1151Ile
XM_011509369.1:c.2476T>A	XP_011507671.1:p.Phe826Ile
XM_011509369.2:c.2476T>A	XP_011507671.1:p.Phe826Ile
XM_017000851.1:c.3190T>A	XP_016856340.1:p.Phe1064Ile
XM_017000852.1:c.4168T>A	XP_016856341.1:p.Phe1390Ile
NM_201253.3:c.4033T>A MANE Select	NP_957705.1:p.Phe1345Ile
NM_001193640.2:c.3697T>A	NP_001180569.1:p.Phe1233Ile
NM_001257965.2:c.3961T>A	NP_001244894.1:p.Phe1321Ile
NR_047563.2:n.3986T>A
NR_047564.2:n.4436T>A
NM_001257966.2:c.2425T>A	NP_001244895.1:p.Phe809Ile