Canonical Allele Identifier: CA1218068850

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435243A= , CM000663.2:g.197435243A=	GRCh38
NC_000001.10:g.197404373A= , CM000663.1:g.197404373A=	GRCh37
NC_000001.9:g.195670996A=	NCBI36
NG_008483.1:g.171966A=
NG_008483.2:g.238782A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3380A= MANE Select	ENSP00000356370.3:p.Lys1127=
ENST00000638467.1:c.3380A=	ENSP00000491102.1:p.Lys1127=
ENST00000681519.1:c.2261A=	ENSP00000505267.1:p.Lys754=
ENST00000367397.1:c.1523A=	ENSP00000356367.1:p.Lys508=
ENST00000367399.6:c.3044A=	ENSP00000356369.2:p.Lys1015=
ENST00000367400.7:c.3380A=	ENSP00000356370.3:p.Lys1127=
ENST00000484075.5:c.3380A=	ENSP00000433932.1:p.Lys1127=
ENST00000535699.5:c.3308A=	ENSP00000438786.1:p.Lys1103=
ENST00000538660.5:c.2129-357A=	ENSP00000438091.1:n.2129-357A=
NM_001193640.1:c.3044A=	NP_001180569.1:p.Lys1015=
NM_001257965.1:c.3308A=	NP_001244894.1:p.Lys1103=
NM_001257966.1:c.2129-357A=	NP_001244895.1:n.2129-357A=
NM_201253.2:c.3380A=	NP_957705.1:p.Lys1127=
NR_047563.1:n.3381A=
NR_047564.1:n.3589A=
XM_011509365.1:c.3380A=	XP_011507667.1:p.Lys1127=
XM_011509366.1:c.3380A=	XP_011507668.1:p.Lys1127=
XM_011509367.1:c.3380A=	XP_011507669.1:p.Lys1127=
XM_011509368.1:c.2798A=	XP_011507670.1:p.Lys933=
XM_011509369.1:c.1823A=	XP_011507671.1:p.Lys608=
XM_011509365.2:c.3380A=	XP_011507667.1:p.Lys1127=
XM_011509369.2:c.1823A=	XP_011507671.1:p.Lys608=
XM_017000851.1:c.2537A=	XP_016856340.1:p.Lys846=
XM_017000852.1:c.3515A=	XP_016856341.1:p.Lys1172=
NM_201253.3:c.3380A= MANE Select	NP_957705.1:p.Lys1127=
NM_001193640.2:c.3044A=	NP_001180569.1:p.Lys1015=
NM_001257965.2:c.3308A=	NP_001244894.1:p.Lys1103=
NR_047563.2:n.3333A=
NR_047564.2:n.3541A=
NM_001257966.2:c.2129-357A=	NP_001244895.1:n.2129-357A=