Canonical Allele Identifier: CA344036084

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477865G>A , CM000663.2:g.197477865G>A	GRCh38
NC_000001.10:g.197446995G>A , CM000663.1:g.197446995G>A	GRCh37
NC_000001.9:g.195713618G>A	NCBI36
NG_008483.1:g.214588G>A
NG_008483.2:g.281404G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.4207G>A MANE Select	NP_957705.1:p.Glu1403Lys
ENST00000367400.8:c.4207G>A MANE Select	ENSP00000356370.3:p.Glu1403Lys
NM_001193640.1:c.3871G>A	NP_001180569.1:p.Glu1291Lys
NM_001193640.2:c.3871G>A	NP_001180569.1:p.Glu1291Lys
NM_001257965.1:c.4135G>A	NP_001244894.1:p.Glu1379Lys
NM_001257965.2:c.4135G>A	NP_001244894.1:p.Glu1379Lys
NM_001257966.1:c.2599G>A	NP_001244895.1:p.Glu867Lys
NM_001257966.2:c.2599G>A	NP_001244895.1:p.Glu867Lys
NM_201253.2:c.4207G>A	NP_957705.1:p.Glu1403Lys
NR_047563.1:n.4208G>A
NR_047563.2:n.4160G>A
NR_047564.1:n.4658G>A
NR_047564.2:n.4610G>A
ENST00000367399.6:c.3871G>A	ENSP00000356369.2:p.Glu1291Lys
ENST00000367400.7:c.4207G>A	ENSP00000356370.3:p.Glu1403Lys
ENST00000448952.1:c.441G>A	ENSP00000395407.1:n.441G>A
ENST00000484075.5:c.*318G>A	ENSP00000433932.1:n.*318G>A
ENST00000535699.5:c.4135G>A	ENSP00000438786.1:p.Glu1379Lys
ENST00000538660.5:c.2599G>A	ENSP00000438091.1:p.Glu867Lys
XM_011509366.1:c.*312G>A	XP_011507668.1:n.*312G>A
XM_011509367.1:c.*186G>A	XP_011507669.1:n.*186G>A
XM_011509368.1:c.3625G>A	XP_011507670.1:p.Glu1209Lys
XM_011509369.1:c.2650G>A	XP_011507671.1:p.Glu884Lys
XM_011509369.2:c.2650G>A	XP_011507671.1:p.Glu884Lys
XM_017000851.1:c.3364G>A	XP_016856340.1:p.Glu1122Lys
XM_017000852.1:c.4342G>A	XP_016856341.1:p.Glu1448Lys