Canonical Allele Identifier: CA422808313

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390566G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421436G>A , CM000663.2:g.197421436G>A	GRCh38
NC_000001.10:g.197390566G>A , CM000663.1:g.197390566G>A	GRCh37
NC_000001.9:g.195657189G>A	NCBI36
NG_008483.1:g.158159G>A
NG_008483.2:g.224975G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1608G>A MANE Select	ENSP00000356370.3:p.Glu536=
ENST00000638467.1:c.1608G>A	ENSP00000491102.1:p.Glu536=
ENST00000681519.1:c.489G>A	ENSP00000505267.1:p.Glu163=
ENST00000367397.1:c.-250G>A	ENSP00000356367.1:n.-250G>A
ENST00000367399.6:c.1272G>A	ENSP00000356369.2:p.Glu424=
ENST00000367400.7:c.1608G>A	ENSP00000356370.3:p.Glu536=
ENST00000476483.1:n.568G>A
ENST00000484075.5:c.1608G>A	ENSP00000433932.1:p.Glu536=
ENST00000535699.5:c.1401G>A	ENSP00000438786.1:p.Glu467=
ENST00000538660.5:c.1608G>A	ENSP00000438091.1:p.Glu536=
NM_001193640.1:c.1272G>A	NP_001180569.1:p.Glu424=
NM_001257965.1:c.1401G>A	NP_001244894.1:p.Glu467=
NM_001257966.1:c.1608G>A	NP_001244895.1:p.Glu536=
NM_201253.2:c.1608G>A	NP_957705.1:p.Glu536=
NR_047563.1:n.1817G>A
NR_047564.1:n.1817G>A
XM_011509365.1:c.1608G>A	XP_011507667.1:p.Glu536=
XM_011509366.1:c.1608G>A	XP_011507668.1:p.Glu536=
XM_011509367.1:c.1608G>A	XP_011507669.1:p.Glu536=
XM_011509368.1:c.1026G>A	XP_011507670.1:p.Glu342=
XM_011509369.1:c.51G>A	XP_011507671.1:p.Glu17=
XM_011509365.2:c.1608G>A	XP_011507667.1:p.Glu536=
XM_011509369.2:c.51G>A	XP_011507671.1:p.Glu17=
XM_017000851.1:c.765G>A	XP_016856340.1:p.Glu255=
XM_017000852.1:c.1608G>A	XP_016856341.1:p.Glu536=
NM_201253.3:c.1608G>A MANE Select	NP_957705.1:p.Glu536=
NM_001193640.2:c.1272G>A	NP_001180569.1:p.Glu424=
NM_001257965.2:c.1401G>A	NP_001244894.1:p.Glu467=
NR_047563.2:n.1769G>A
NR_047564.2:n.1769G>A
NM_001257966.2:c.1608G>A	NP_001244895.1:p.Glu536=