Canonical Allele Identifier: CA1218087288

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477857C= , CM000663.2:g.197477857C=	GRCh38
NC_000001.10:g.197446987C= , CM000663.1:g.197446987C=	GRCh37
NC_000001.9:g.195713610C=	NCBI36
NG_008483.1:g.214580C=
NG_008483.2:g.281396C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4199C= MANE Select	ENSP00000356370.3:p.Pro1400=
ENST00000367399.6:c.3863C=	ENSP00000356369.2:p.Pro1288=
ENST00000367400.7:c.4199C=	ENSP00000356370.3:p.Pro1400=
ENST00000448952.1:c.433C=	ENSP00000395407.1:n.433C=
ENST00000484075.5:c.*310C=	ENSP00000433932.1:n.*310C=
ENST00000535699.5:c.4127C=	ENSP00000438786.1:p.Pro1376=
ENST00000538660.5:c.2591C=	ENSP00000438091.1:p.Pro864=
NM_001193640.1:c.3863C=	NP_001180569.1:p.Pro1288=
NM_001257965.1:c.4127C=	NP_001244894.1:p.Pro1376=
NM_001257966.1:c.2591C=	NP_001244895.1:p.Pro864=
NM_201253.2:c.4199C=	NP_957705.1:p.Pro1400=
NR_047563.1:n.4200C=
NR_047564.1:n.4650C=
XM_011509366.1:c.*304C=	XP_011507668.1:n.*304C=
XM_011509367.1:c.*178C=	XP_011507669.1:n.*178C=
XM_011509368.1:c.3617C=	XP_011507670.1:p.Pro1206=
XM_011509369.1:c.2642C=	XP_011507671.1:p.Pro881=
XM_011509369.2:c.2642C=	XP_011507671.1:p.Pro881=
XM_017000851.1:c.3356C=	XP_016856340.1:p.Pro1119=
XM_017000852.1:c.4334C=	XP_016856341.1:p.Pro1445=
NM_201253.3:c.4199C= MANE Select	NP_957705.1:p.Pro1400=
NM_001193640.2:c.3863C=	NP_001180569.1:p.Pro1288=
NM_001257965.2:c.4127C=	NP_001244894.1:p.Pro1376=
NR_047563.2:n.4152C=
NR_047564.2:n.4602C=
NM_001257966.2:c.2591C=	NP_001244895.1:p.Pro864=