Canonical Allele Identifier: CA344035476

Gene: CRB1

Linked Data

• gnomAD v4: 1-197477700-A-G
• MyVariant Identifiers: chr1:g.197446830A>G (hg19) ; chr1:g.197477700A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477700A>G , CM000663.2:g.197477700A>G	GRCh38
NC_000001.10:g.197446830A>G , CM000663.1:g.197446830A>G	GRCh37
NC_000001.9:g.195713453A>G	NCBI36
NG_008483.1:g.214423A>G
NG_008483.2:g.281239A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4042A>G MANE Select	ENSP00000356370.3:p.Ile1348Val
ENST00000367399.6:c.3706A>G	ENSP00000356369.2:p.Ile1236Val
ENST00000367400.7:c.4042A>G	ENSP00000356370.3:p.Ile1348Val
ENST00000448952.1:c.276A>G	ENSP00000395407.1:n.276A>G
ENST00000484075.5:c.*153A>G	ENSP00000433932.1:n.*153A>G
ENST00000535699.5:c.3970A>G	ENSP00000438786.1:p.Ile1324Val
ENST00000538660.5:c.2434A>G	ENSP00000438091.1:p.Ile812Val
NM_001193640.1:c.3706A>G	NP_001180569.1:p.Ile1236Val
NM_001257965.1:c.3970A>G	NP_001244894.1:p.Ile1324Val
NM_001257966.1:c.2434A>G	NP_001244895.1:p.Ile812Val
NM_201253.2:c.4042A>G	NP_957705.1:p.Ile1348Val
NR_047563.1:n.4043A>G
NR_047564.1:n.4493A>G
XM_011509366.1:c.*147A>G	XP_011507668.1:n.*147A>G
XM_011509367.1:c.*21A>G	XP_011507669.1:n.*21A>G
XM_011509368.1:c.3460A>G	XP_011507670.1:p.Ile1154Val
XM_011509369.1:c.2485A>G	XP_011507671.1:p.Ile829Val
XM_011509369.2:c.2485A>G	XP_011507671.1:p.Ile829Val
XM_017000851.1:c.3199A>G	XP_016856340.1:p.Ile1067Val
XM_017000852.1:c.4177A>G	XP_016856341.1:p.Ile1393Val
NM_201253.3:c.4042A>G MANE Select	NP_957705.1:p.Ile1348Val
NM_001193640.2:c.3706A>G	NP_001180569.1:p.Ile1236Val
NM_001257965.2:c.3970A>G	NP_001244894.1:p.Ile1324Val
NR_047563.2:n.3995A>G
NR_047564.2:n.4445A>G
NM_001257966.2:c.2434A>G	NP_001244895.1:p.Ile812Val