Canonical Allele Identifier: CA1143993964

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434905T= , CM000663.2:g.197434905T=	GRCh38
NC_000001.10:g.197404035T= , CM000663.1:g.197404035T=	GRCh37
NC_000001.9:g.195670658T=	NCBI36
NG_008483.1:g.171628T=
NG_008483.2:g.238444T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3042T= MANE Select	ENSP00000356370.3:p.Ser1014=
ENST00000638467.1:c.3042T=	ENSP00000491102.1:p.Ser1014=
ENST00000681519.1:c.1923T=	ENSP00000505267.1:p.Ser641=
ENST00000367397.1:c.1185T=	ENSP00000356367.1:p.Ser395=
ENST00000367399.6:c.2706T=	ENSP00000356369.2:p.Ser902=
ENST00000367400.7:c.3042T=	ENSP00000356370.3:p.Ser1014=
ENST00000484075.5:c.3042T=	ENSP00000433932.1:p.Ser1014=
ENST00000535699.5:c.2970T=	ENSP00000438786.1:p.Ser990=
ENST00000538660.5:c.2129-695T=	ENSP00000438091.1:n.2129-695T=
NM_001193640.1:c.2706T=	NP_001180569.1:p.Ser902=
NM_001257965.1:c.2970T=	NP_001244894.1:p.Ser990=
NM_001257966.1:c.2129-695T=	NP_001244895.1:n.2129-695T=
NM_201253.2:c.3042T=	NP_957705.1:p.Ser1014=
NR_047563.1:n.3043T=
NR_047564.1:n.3251T=
XM_011509365.1:c.3042T=	XP_011507667.1:p.Ser1014=
XM_011509366.1:c.3042T=	XP_011507668.1:p.Ser1014=
XM_011509367.1:c.3042T=	XP_011507669.1:p.Ser1014=
XM_011509368.1:c.2460T=	XP_011507670.1:p.Ser820=
XM_011509369.1:c.1485T=	XP_011507671.1:p.Ser495=
XM_011509365.2:c.3042T=	XP_011507667.1:p.Ser1014=
XM_011509369.2:c.1485T=	XP_011507671.1:p.Ser495=
XM_017000851.1:c.2199T=	XP_016856340.1:p.Ser733=
XM_017000852.1:c.3177T=	XP_016856341.1:p.Ser1059=
NM_201253.3:c.3042T= MANE Select	NP_957705.1:p.Ser1014=
NM_001193640.2:c.2706T=	NP_001180569.1:p.Ser902=
NM_001257965.2:c.2970T=	NP_001244894.1:p.Ser990=
NR_047563.2:n.2995T=
NR_047564.2:n.3203T=
NM_001257966.2:c.2129-695T=	NP_001244895.1:n.2129-695T=