Canonical Allele Identifier: CA344035534

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446860A>T (hg19) ; chr1:g.197477730A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477730A>T , CM000663.2:g.197477730A>T	GRCh38
NC_000001.10:g.197446860A>T , CM000663.1:g.197446860A>T	GRCh37
NC_000001.9:g.195713483A>T	NCBI36
NG_008483.1:g.214453A>T
NG_008483.2:g.281269A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4072A>T MANE Select	ENSP00000356370.3:p.Ile1358Phe
ENST00000367399.6:c.3736A>T	ENSP00000356369.2:p.Ile1246Phe
ENST00000367400.7:c.4072A>T	ENSP00000356370.3:p.Ile1358Phe
ENST00000448952.1:c.306A>T	ENSP00000395407.1:n.306A>T
ENST00000484075.5:c.*183A>T	ENSP00000433932.1:n.*183A>T
ENST00000535699.5:c.4000A>T	ENSP00000438786.1:p.Ile1334Phe
ENST00000538660.5:c.2464A>T	ENSP00000438091.1:p.Ile822Phe
NM_001193640.1:c.3736A>T	NP_001180569.1:p.Ile1246Phe
NM_001257965.1:c.4000A>T	NP_001244894.1:p.Ile1334Phe
NM_001257966.1:c.2464A>T	NP_001244895.1:p.Ile822Phe
NM_201253.2:c.4072A>T	NP_957705.1:p.Ile1358Phe
NR_047563.1:n.4073A>T
NR_047564.1:n.4523A>T
XM_011509366.1:c.*177A>T	XP_011507668.1:n.*177A>T
XM_011509367.1:c.*51A>T	XP_011507669.1:n.*51A>T
XM_011509368.1:c.3490A>T	XP_011507670.1:p.Ile1164Phe
XM_011509369.1:c.2515A>T	XP_011507671.1:p.Ile839Phe
XM_011509369.2:c.2515A>T	XP_011507671.1:p.Ile839Phe
XM_017000851.1:c.3229A>T	XP_016856340.1:p.Ile1077Phe
XM_017000852.1:c.4207A>T	XP_016856341.1:p.Ile1403Phe
NM_201253.3:c.4072A>T MANE Select	NP_957705.1:p.Ile1358Phe
NM_001193640.2:c.3736A>T	NP_001180569.1:p.Ile1246Phe
NM_001257965.2:c.4000A>T	NP_001244894.1:p.Ile1334Phe
NR_047563.2:n.4025A>T
NR_047564.2:n.4475A>T
NM_001257966.2:c.2464A>T	NP_001244895.1:p.Ile822Phe