Canonical Allele Identifier: CA344047588

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404393G>A (hg19) ; chr1:g.197435263G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435263G>A , CM000663.2:g.197435263G>A	GRCh38
NC_000001.10:g.197404393G>A , CM000663.1:g.197404393G>A	GRCh37
NC_000001.9:g.195671016G>A	NCBI36
NG_008483.1:g.171986G>A
NG_008483.2:g.238802G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3400G>A MANE Select	ENSP00000356370.3:p.Val1134Ile
ENST00000638467.1:c.3400G>A	ENSP00000491102.1:p.Val1134Ile
ENST00000681519.1:c.2281G>A	ENSP00000505267.1:p.Val761Ile
ENST00000367397.1:c.1543G>A	ENSP00000356367.1:p.Val515Ile
ENST00000367399.6:c.3064G>A	ENSP00000356369.2:p.Val1022Ile
ENST00000367400.7:c.3400G>A	ENSP00000356370.3:p.Val1134Ile
ENST00000484075.5:c.3400G>A	ENSP00000433932.1:p.Val1134Ile
ENST00000535699.5:c.3328G>A	ENSP00000438786.1:p.Val1110Ile
ENST00000538660.5:c.2129-337G>A	ENSP00000438091.1:n.2129-337G>A
NM_001193640.1:c.3064G>A	NP_001180569.1:p.Val1022Ile
NM_001257965.1:c.3328G>A	NP_001244894.1:p.Val1110Ile
NM_001257966.1:c.2129-337G>A	NP_001244895.1:n.2129-337G>A
NM_201253.2:c.3400G>A	NP_957705.1:p.Val1134Ile
NR_047563.1:n.3401G>A
NR_047564.1:n.3609G>A
XM_011509365.1:c.3400G>A	XP_011507667.1:p.Val1134Ile
XM_011509366.1:c.3400G>A	XP_011507668.1:p.Val1134Ile
XM_011509367.1:c.3400G>A	XP_011507669.1:p.Val1134Ile
XM_011509368.1:c.2818G>A	XP_011507670.1:p.Val940Ile
XM_011509369.1:c.1843G>A	XP_011507671.1:p.Val615Ile
XM_011509365.2:c.3400G>A	XP_011507667.1:p.Val1134Ile
XM_011509369.2:c.1843G>A	XP_011507671.1:p.Val615Ile
XM_017000851.1:c.2557G>A	XP_016856340.1:p.Val853Ile
XM_017000852.1:c.3535G>A	XP_016856341.1:p.Val1179Ile
NM_201253.3:c.3400G>A MANE Select	NP_957705.1:p.Val1134Ile
NM_001193640.2:c.3064G>A	NP_001180569.1:p.Val1022Ile
NM_001257965.2:c.3328G>A	NP_001244894.1:p.Val1110Ile
NR_047563.2:n.3353G>A
NR_047564.2:n.3561G>A
NM_001257966.2:c.2129-337G>A	NP_001244895.1:n.2129-337G>A