Canonical Allele Identifier: CA3071752522

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435246T= , CM000663.2:g.197435246T=	GRCh38
NC_000001.10:g.197404376T= , CM000663.1:g.197404376T=	GRCh37
NC_000001.9:g.195670999T=	NCBI36
NG_008483.1:g.171969T=
NG_008483.2:g.238785T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3383T= MANE Select	ENSP00000356370.3:p.Ile1128=
ENST00000638467.1:c.3383T=	ENSP00000491102.1:p.Ile1128=
ENST00000681519.1:c.2264T=	ENSP00000505267.1:p.Ile755=
ENST00000367397.1:c.1526T=	ENSP00000356367.1:p.Ile509=
ENST00000367399.6:c.3047T=	ENSP00000356369.2:p.Ile1016=
ENST00000367400.7:c.3383T=	ENSP00000356370.3:p.Ile1128=
ENST00000484075.5:c.3383T=	ENSP00000433932.1:p.Ile1128=
ENST00000535699.5:c.3311T=	ENSP00000438786.1:p.Ile1104=
ENST00000538660.5:c.2129-354T=	ENSP00000438091.1:n.2129-354T=
NM_001193640.1:c.3047T=	NP_001180569.1:p.Ile1016=
NM_001257965.1:c.3311T=	NP_001244894.1:p.Ile1104=
NM_001257966.1:c.2129-354T=	NP_001244895.1:n.2129-354T=
NM_201253.2:c.3383T=	NP_957705.1:p.Ile1128=
NR_047563.1:n.3384T=
NR_047564.1:n.3592T=
XM_011509365.1:c.3383T=	XP_011507667.1:p.Ile1128=
XM_011509366.1:c.3383T=	XP_011507668.1:p.Ile1128=
XM_011509367.1:c.3383T=	XP_011507669.1:p.Ile1128=
XM_011509368.1:c.2801T=	XP_011507670.1:p.Ile934=
XM_011509369.1:c.1826T=	XP_011507671.1:p.Ile609=
XM_011509365.2:c.3383T=	XP_011507667.1:p.Ile1128=
XM_011509369.2:c.1826T=	XP_011507671.1:p.Ile609=
XM_017000851.1:c.2540T=	XP_016856340.1:p.Ile847=
XM_017000852.1:c.3518T=	XP_016856341.1:p.Ile1173=
NM_201253.3:c.3383T= MANE Select	NP_957705.1:p.Ile1128=
NM_001193640.2:c.3047T=	NP_001180569.1:p.Ile1016=
NM_001257965.2:c.3311T=	NP_001244894.1:p.Ile1104=
NR_047563.2:n.3336T=
NR_047564.2:n.3544T=
NM_001257966.2:c.2129-354T=	NP_001244895.1:n.2129-354T=