Canonical Allele Identifier: CA344036097

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446996A>T (hg19) ; chr1:g.197477866A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477866A>T , CM000663.2:g.197477866A>T	GRCh38
NC_000001.10:g.197446996A>T , CM000663.1:g.197446996A>T	GRCh37
NC_000001.9:g.195713619A>T	NCBI36
NG_008483.1:g.214589A>T
NG_008483.2:g.281405A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4208A>T MANE Select	ENSP00000356370.3:p.Glu1403Val
ENST00000367399.6:c.3872A>T	ENSP00000356369.2:p.Glu1291Val
ENST00000367400.7:c.4208A>T	ENSP00000356370.3:p.Glu1403Val
ENST00000448952.1:c.442A>T	ENSP00000395407.1:n.442A>T
ENST00000484075.5:c.*319A>T	ENSP00000433932.1:n.*319A>T
ENST00000535699.5:c.4136A>T	ENSP00000438786.1:p.Glu1379Val
ENST00000538660.5:c.2600A>T	ENSP00000438091.1:p.Glu867Val
NM_001193640.1:c.3872A>T	NP_001180569.1:p.Glu1291Val
NM_001257965.1:c.4136A>T	NP_001244894.1:p.Glu1379Val
NM_001257966.1:c.2600A>T	NP_001244895.1:p.Glu867Val
NM_201253.2:c.4208A>T	NP_957705.1:p.Glu1403Val
NR_047563.1:n.4209A>T
NR_047564.1:n.4659A>T
XM_011509366.1:c.*313A>T	XP_011507668.1:n.*313A>T
XM_011509367.1:c.*187A>T	XP_011507669.1:n.*187A>T
XM_011509368.1:c.3626A>T	XP_011507670.1:p.Glu1209Val
XM_011509369.1:c.2651A>T	XP_011507671.1:p.Glu884Val
XM_011509369.2:c.2651A>T	XP_011507671.1:p.Glu884Val
XM_017000851.1:c.3365A>T	XP_016856340.1:p.Glu1122Val
XM_017000852.1:c.4343A>T	XP_016856341.1:p.Glu1448Val
NM_201253.3:c.4208A>T MANE Select	NP_957705.1:p.Glu1403Val
NM_001193640.2:c.3872A>T	NP_001180569.1:p.Glu1291Val
NM_001257965.2:c.4136A>T	NP_001244894.1:p.Glu1379Val
NR_047563.2:n.4161A>T
NR_047564.2:n.4611A>T
NM_001257966.2:c.2600A>T	NP_001244895.1:p.Glu867Val