Canonical Allele Identifier: CA1142138077

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435262G= , CM000663.2:g.197435262G=	GRCh38
NC_000001.10:g.197404392G= , CM000663.1:g.197404392G=	GRCh37
NC_000001.9:g.195671015G=	NCBI36
NG_008483.1:g.171985G=
NG_008483.2:g.238801G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3399G= MANE Select	ENSP00000356370.3:p.Val1133=
ENST00000638467.1:c.3399G=	ENSP00000491102.1:p.Val1133=
ENST00000681519.1:c.2280G=	ENSP00000505267.1:p.Val760=
ENST00000367397.1:c.1542G=	ENSP00000356367.1:p.Val514=
ENST00000367399.6:c.3063G=	ENSP00000356369.2:p.Val1021=
ENST00000367400.7:c.3399G=	ENSP00000356370.3:p.Val1133=
ENST00000484075.5:c.3399G=	ENSP00000433932.1:p.Val1133=
ENST00000535699.5:c.3327G=	ENSP00000438786.1:p.Val1109=
ENST00000538660.5:c.2129-338G=	ENSP00000438091.1:n.2129-338G=
NM_001193640.1:c.3063G=	NP_001180569.1:p.Val1021=
NM_001257965.1:c.3327G=	NP_001244894.1:p.Val1109=
NM_001257966.1:c.2129-338G=	NP_001244895.1:n.2129-338G=
NM_201253.2:c.3399G=	NP_957705.1:p.Val1133=
NR_047563.1:n.3400G=
NR_047564.1:n.3608G=
XM_011509365.1:c.3399G=	XP_011507667.1:p.Val1133=
XM_011509366.1:c.3399G=	XP_011507668.1:p.Val1133=
XM_011509367.1:c.3399G=	XP_011507669.1:p.Val1133=
XM_011509368.1:c.2817G=	XP_011507670.1:p.Val939=
XM_011509369.1:c.1842G=	XP_011507671.1:p.Val614=
XM_011509365.2:c.3399G=	XP_011507667.1:p.Val1133=
XM_011509369.2:c.1842G=	XP_011507671.1:p.Val614=
XM_017000851.1:c.2556G=	XP_016856340.1:p.Val852=
XM_017000852.1:c.3534G=	XP_016856341.1:p.Val1178=
NM_201253.3:c.3399G= MANE Select	NP_957705.1:p.Val1133=
NM_001193640.2:c.3063G=	NP_001180569.1:p.Val1021=
NM_001257965.2:c.3327G=	NP_001244894.1:p.Val1109=
NR_047563.2:n.3352G=
NR_047564.2:n.3560G=
NM_001257966.2:c.2129-338G=	NP_001244895.1:n.2129-338G=