Canonical Allele Identifier: CA1218068854

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435251A= , CM000663.2:g.197435251A=	GRCh38
NC_000001.10:g.197404381A= , CM000663.1:g.197404381A=	GRCh37
NC_000001.9:g.195671004A=	NCBI36
NG_008483.1:g.171974A=
NG_008483.2:g.238790A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3388A= MANE Select	ENSP00000356370.3:p.Thr1130=
ENST00000638467.1:c.3388A=	ENSP00000491102.1:p.Thr1130=
ENST00000681519.1:c.2269A=	ENSP00000505267.1:p.Thr757=
ENST00000367397.1:c.1531A=	ENSP00000356367.1:p.Thr511=
ENST00000367399.6:c.3052A=	ENSP00000356369.2:p.Thr1018=
ENST00000367400.7:c.3388A=	ENSP00000356370.3:p.Thr1130=
ENST00000484075.5:c.3388A=	ENSP00000433932.1:p.Thr1130=
ENST00000535699.5:c.3316A=	ENSP00000438786.1:p.Thr1106=
ENST00000538660.5:c.2129-349A=	ENSP00000438091.1:n.2129-349A=
NM_001193640.1:c.3052A=	NP_001180569.1:p.Thr1018=
NM_001257965.1:c.3316A=	NP_001244894.1:p.Thr1106=
NM_001257966.1:c.2129-349A=	NP_001244895.1:n.2129-349A=
NM_201253.2:c.3388A=	NP_957705.1:p.Thr1130=
NR_047563.1:n.3389A=
NR_047564.1:n.3597A=
XM_011509365.1:c.3388A=	XP_011507667.1:p.Thr1130=
XM_011509366.1:c.3388A=	XP_011507668.1:p.Thr1130=
XM_011509367.1:c.3388A=	XP_011507669.1:p.Thr1130=
XM_011509368.1:c.2806A=	XP_011507670.1:p.Thr936=
XM_011509369.1:c.1831A=	XP_011507671.1:p.Thr611=
XM_011509365.2:c.3388A=	XP_011507667.1:p.Thr1130=
XM_011509369.2:c.1831A=	XP_011507671.1:p.Thr611=
XM_017000851.1:c.2545A=	XP_016856340.1:p.Thr849=
XM_017000852.1:c.3523A=	XP_016856341.1:p.Thr1175=
NM_201253.3:c.3388A= MANE Select	NP_957705.1:p.Thr1130=
NM_001193640.2:c.3052A=	NP_001180569.1:p.Thr1018=
NM_001257965.2:c.3316A=	NP_001244894.1:p.Thr1106=
NR_047563.2:n.3341A=
NR_047564.2:n.3549A=
NM_001257966.2:c.2129-349A=	NP_001244895.1:n.2129-349A=