Canonical Allele Identifier: CA1218068689

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434841A= , CM000663.2:g.197434841A=	GRCh38
NC_000001.10:g.197403971A= , CM000663.1:g.197403971A=	GRCh37
NC_000001.9:g.195670594A=	NCBI36
NG_008483.1:g.171564A=
NG_008483.2:g.238380A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2978A= MANE Select	ENSP00000356370.3:p.Glu993=
ENST00000638467.1:c.2978A=	ENSP00000491102.1:p.Glu993=
ENST00000681519.1:c.1859A=	ENSP00000505267.1:p.Glu620=
ENST00000367397.1:c.1121A=	ENSP00000356367.1:p.Glu374=
ENST00000367399.6:c.2642A=	ENSP00000356369.2:p.Glu881=
ENST00000367400.7:c.2978A=	ENSP00000356370.3:p.Glu993=
ENST00000484075.5:c.2978A=	ENSP00000433932.1:p.Glu993=
ENST00000535699.5:c.2906A=	ENSP00000438786.1:p.Glu969=
ENST00000538660.5:c.2129-759A=	ENSP00000438091.1:n.2129-759A=
NM_001193640.1:c.2642A=	NP_001180569.1:p.Glu881=
NM_001257965.1:c.2906A=	NP_001244894.1:p.Glu969=
NM_001257966.1:c.2129-759A=	NP_001244895.1:n.2129-759A=
NM_201253.2:c.2978A=	NP_957705.1:p.Glu993=
NR_047563.1:n.2979A=
NR_047564.1:n.3187A=
XM_011509365.1:c.2978A=	XP_011507667.1:p.Glu993=
XM_011509366.1:c.2978A=	XP_011507668.1:p.Glu993=
XM_011509367.1:c.2978A=	XP_011507669.1:p.Glu993=
XM_011509368.1:c.2396A=	XP_011507670.1:p.Glu799=
XM_011509369.1:c.1421A=	XP_011507671.1:p.Glu474=
XM_011509365.2:c.2978A=	XP_011507667.1:p.Glu993=
XM_011509369.2:c.1421A=	XP_011507671.1:p.Glu474=
XM_017000851.1:c.2135A=	XP_016856340.1:p.Glu712=
XM_017000852.1:c.3113A=	XP_016856341.1:p.Glu1038=
NM_201253.3:c.2978A= MANE Select	NP_957705.1:p.Glu993=
NM_001193640.2:c.2642A=	NP_001180569.1:p.Glu881=
NM_001257965.2:c.2906A=	NP_001244894.1:p.Glu969=
NR_047563.2:n.2931A=
NR_047564.2:n.3139A=
NM_001257966.2:c.2129-759A=	NP_001244895.1:n.2129-759A=