Canonical Allele Identifier: CA1143640397

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427636A= , CM000663.2:g.197427636A=	GRCh38
NC_000001.10:g.197396766A= , CM000663.1:g.197396766A=	GRCh37
NC_000001.9:g.195663389A=	NCBI36
NG_008483.1:g.164359A=
NG_008483.2:g.231175A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2311A= MANE Select	ENSP00000356370.3:p.Arg771=
ENST00000638467.1:c.2311A=	ENSP00000491102.1:p.Arg771=
ENST00000681519.1:c.1192A=	ENSP00000505267.1:p.Arg398=
ENST00000367397.1:c.454A=	ENSP00000356367.1:p.Arg152=
ENST00000367399.6:c.1975A=	ENSP00000356369.2:p.Arg659=
ENST00000367400.7:c.2311A=	ENSP00000356370.3:p.Arg771=
ENST00000480086.2:n.212A=
ENST00000484075.5:c.2311A=	ENSP00000433932.1:p.Arg771=
ENST00000535699.5:c.2104A=	ENSP00000438786.1:p.Arg702=
ENST00000538660.5:c.2128+5680A=	ENSP00000438091.1:n.2128+5680A=
NM_001193640.1:c.1975A=	NP_001180569.1:p.Arg659=
NM_001257965.1:c.2104A=	NP_001244894.1:p.Arg702=
NM_001257966.1:c.2128+5680A=	NP_001244895.1:n.2128+5680A=
NM_201253.2:c.2311A=	NP_957705.1:p.Arg771=
NR_047563.1:n.2312A=
NR_047564.1:n.2520A=
XM_011509365.1:c.2311A=	XP_011507667.1:p.Arg771=
XM_011509366.1:c.2311A=	XP_011507668.1:p.Arg771=
XM_011509367.1:c.2311A=	XP_011507669.1:p.Arg771=
XM_011509368.1:c.1729A=	XP_011507670.1:p.Arg577=
XM_011509369.1:c.754A=	XP_011507671.1:p.Arg252=
XM_011509365.2:c.2311A=	XP_011507667.1:p.Arg771=
XM_011509369.2:c.754A=	XP_011507671.1:p.Arg252=
XM_017000851.1:c.1468A=	XP_016856340.1:p.Arg490=
XM_017000852.1:c.2311A=	XP_016856341.1:p.Arg771=
NM_201253.3:c.2311A= MANE Select	NP_957705.1:p.Arg771=
NM_001193640.2:c.1975A=	NP_001180569.1:p.Arg659=
NM_001257965.2:c.2104A=	NP_001244894.1:p.Arg702=
NR_047563.2:n.2264A=
NR_047564.2:n.2472A=
NM_001257966.2:c.2128+5680A=	NP_001244895.1:n.2128+5680A=