Canonical Allele Identifier: CA1218068717

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434919A= , CM000663.2:g.197434919A=	GRCh38
NC_000001.10:g.197404049A= , CM000663.1:g.197404049A=	GRCh37
NC_000001.9:g.195670672A=	NCBI36
NG_008483.1:g.171642A=
NG_008483.2:g.238458A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3056A= MANE Select	ENSP00000356370.3:p.Tyr1019=
ENST00000638467.1:c.3056A=	ENSP00000491102.1:p.Tyr1019=
ENST00000681519.1:c.1937A=	ENSP00000505267.1:p.Tyr646=
ENST00000367397.1:c.1199A=	ENSP00000356367.1:p.Tyr400=
ENST00000367399.6:c.2720A=	ENSP00000356369.2:p.Tyr907=
ENST00000367400.7:c.3056A=	ENSP00000356370.3:p.Tyr1019=
ENST00000484075.5:c.3056A=	ENSP00000433932.1:p.Tyr1019=
ENST00000535699.5:c.2984A=	ENSP00000438786.1:p.Tyr995=
ENST00000538660.5:c.2129-681A=	ENSP00000438091.1:n.2129-681A=
NM_001193640.1:c.2720A=	NP_001180569.1:p.Tyr907=
NM_001257965.1:c.2984A=	NP_001244894.1:p.Tyr995=
NM_001257966.1:c.2129-681A=	NP_001244895.1:n.2129-681A=
NM_201253.2:c.3056A=	NP_957705.1:p.Tyr1019=
NR_047563.1:n.3057A=
NR_047564.1:n.3265A=
XM_011509365.1:c.3056A=	XP_011507667.1:p.Tyr1019=
XM_011509366.1:c.3056A=	XP_011507668.1:p.Tyr1019=
XM_011509367.1:c.3056A=	XP_011507669.1:p.Tyr1019=
XM_011509368.1:c.2474A=	XP_011507670.1:p.Tyr825=
XM_011509369.1:c.1499A=	XP_011507671.1:p.Tyr500=
XM_011509365.2:c.3056A=	XP_011507667.1:p.Tyr1019=
XM_011509369.2:c.1499A=	XP_011507671.1:p.Tyr500=
XM_017000851.1:c.2213A=	XP_016856340.1:p.Tyr738=
XM_017000852.1:c.3191A=	XP_016856341.1:p.Tyr1064=
NM_201253.3:c.3056A= MANE Select	NP_957705.1:p.Tyr1019=
NM_001193640.2:c.2720A=	NP_001180569.1:p.Tyr907=
NM_001257965.2:c.2984A=	NP_001244894.1:p.Tyr995=
NR_047563.2:n.3009A=
NR_047564.2:n.3217A=
NM_001257966.2:c.2129-681A=	NP_001244895.1:n.2129-681A=