Canonical Allele Identifier: CA1218087280

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477836T= , CM000663.2:g.197477836T=	GRCh38
NC_000001.10:g.197446966T= , CM000663.1:g.197446966T=	GRCh37
NC_000001.9:g.195713589T=	NCBI36
NG_008483.1:g.214559T=
NG_008483.2:g.281375T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4178T= MANE Select	ENSP00000356370.3:p.Met1393=
ENST00000367399.6:c.3842T=	ENSP00000356369.2:p.Met1281=
ENST00000367400.7:c.4178T=	ENSP00000356370.3:p.Met1393=
ENST00000448952.1:c.412T=	ENSP00000395407.1:n.412T=
ENST00000484075.5:c.*289T=	ENSP00000433932.1:n.*289T=
ENST00000535699.5:c.4106T=	ENSP00000438786.1:p.Met1369=
ENST00000538660.5:c.2570T=	ENSP00000438091.1:p.Met857=
NM_001193640.1:c.3842T=	NP_001180569.1:p.Met1281=
NM_001257965.1:c.4106T=	NP_001244894.1:p.Met1369=
NM_001257966.1:c.2570T=	NP_001244895.1:p.Met857=
NM_201253.2:c.4178T=	NP_957705.1:p.Met1393=
NR_047563.1:n.4179T=
NR_047564.1:n.4629T=
XM_011509366.1:c.*283T=	XP_011507668.1:n.*283T=
XM_011509367.1:c.*157T=	XP_011507669.1:n.*157T=
XM_011509368.1:c.3596T=	XP_011507670.1:p.Met1199=
XM_011509369.1:c.2621T=	XP_011507671.1:p.Met874=
XM_011509369.2:c.2621T=	XP_011507671.1:p.Met874=
XM_017000851.1:c.3335T=	XP_016856340.1:p.Met1112=
XM_017000852.1:c.4313T=	XP_016856341.1:p.Met1438=
NM_201253.3:c.4178T= MANE Select	NP_957705.1:p.Met1393=
NM_001193640.2:c.3842T=	NP_001180569.1:p.Met1281=
NM_001257965.2:c.4106T=	NP_001244894.1:p.Met1369=
NR_047563.2:n.4131T=
NR_047564.2:n.4581T=
NM_001257966.2:c.2570T=	NP_001244895.1:p.Met857=