Canonical Allele Identifier: CA1218068764

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435020A= , CM000663.2:g.197435020A=	GRCh38
NC_000001.10:g.197404150A= , CM000663.1:g.197404150A=	GRCh37
NC_000001.9:g.195670773A=	NCBI36
NG_008483.1:g.171743A=
NG_008483.2:g.238559A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3157A= MANE Select	ENSP00000356370.3:p.Met1053=
ENST00000638467.1:c.3157A=	ENSP00000491102.1:p.Met1053=
ENST00000681519.1:c.2038A=	ENSP00000505267.1:p.Met680=
ENST00000367397.1:c.1300A=	ENSP00000356367.1:p.Met434=
ENST00000367399.6:c.2821A=	ENSP00000356369.2:p.Met941=
ENST00000367400.7:c.3157A=	ENSP00000356370.3:p.Met1053=
ENST00000484075.5:c.3157A=	ENSP00000433932.1:p.Met1053=
ENST00000535699.5:c.3085A=	ENSP00000438786.1:p.Met1029=
ENST00000538660.5:c.2129-580A=	ENSP00000438091.1:n.2129-580A=
NM_001193640.1:c.2821A=	NP_001180569.1:p.Met941=
NM_001257965.1:c.3085A=	NP_001244894.1:p.Met1029=
NM_001257966.1:c.2129-580A=	NP_001244895.1:n.2129-580A=
NM_201253.2:c.3157A=	NP_957705.1:p.Met1053=
NR_047563.1:n.3158A=
NR_047564.1:n.3366A=
XM_011509365.1:c.3157A=	XP_011507667.1:p.Met1053=
XM_011509366.1:c.3157A=	XP_011507668.1:p.Met1053=
XM_011509367.1:c.3157A=	XP_011507669.1:p.Met1053=
XM_011509368.1:c.2575A=	XP_011507670.1:p.Met859=
XM_011509369.1:c.1600A=	XP_011507671.1:p.Met534=
XM_011509365.2:c.3157A=	XP_011507667.1:p.Met1053=
XM_011509369.2:c.1600A=	XP_011507671.1:p.Met534=
XM_017000851.1:c.2314A=	XP_016856340.1:p.Met772=
XM_017000852.1:c.3292A=	XP_016856341.1:p.Met1098=
NM_201253.3:c.3157A= MANE Select	NP_957705.1:p.Met1053=
NM_001193640.2:c.2821A=	NP_001180569.1:p.Met941=
NM_001257965.2:c.3085A=	NP_001244894.1:p.Met1029=
NR_047563.2:n.3110A=
NR_047564.2:n.3318A=
NM_001257966.2:c.2129-580A=	NP_001244895.1:n.2129-580A=