Canonical Allele Identifier: CA1143420158

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477718G= , CM000663.2:g.197477718G=	GRCh38
NC_000001.10:g.197446848G= , CM000663.1:g.197446848G=	GRCh37
NC_000001.9:g.195713471G=	NCBI36
NG_008483.1:g.214441G=
NG_008483.2:g.281257G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4060G= MANE Select	ENSP00000356370.3:p.Ala1354=
ENST00000367399.6:c.3724G=	ENSP00000356369.2:p.Ala1242=
ENST00000367400.7:c.4060G=	ENSP00000356370.3:p.Ala1354=
ENST00000448952.1:c.294G=	ENSP00000395407.1:n.294G=
ENST00000484075.5:c.*171G=	ENSP00000433932.1:n.*171G=
ENST00000535699.5:c.3988G=	ENSP00000438786.1:p.Ala1330=
ENST00000538660.5:c.2452G=	ENSP00000438091.1:p.Ala818=
NM_001193640.1:c.3724G=	NP_001180569.1:p.Ala1242=
NM_001257965.1:c.3988G=	NP_001244894.1:p.Ala1330=
NM_001257966.1:c.2452G=	NP_001244895.1:p.Ala818=
NM_201253.2:c.4060G=	NP_957705.1:p.Ala1354=
NR_047563.1:n.4061G=
NR_047564.1:n.4511G=
XM_011509366.1:c.*165G=	XP_011507668.1:n.*165G=
XM_011509367.1:c.*39G=	XP_011507669.1:n.*39G=
XM_011509368.1:c.3478G=	XP_011507670.1:p.Ala1160=
XM_011509369.1:c.2503G=	XP_011507671.1:p.Ala835=
XM_011509369.2:c.2503G=	XP_011507671.1:p.Ala835=
XM_017000851.1:c.3217G=	XP_016856340.1:p.Ala1073=
XM_017000852.1:c.4195G=	XP_016856341.1:p.Ala1399=
NM_201253.3:c.4060G= MANE Select	NP_957705.1:p.Ala1354=
NM_001193640.2:c.3724G=	NP_001180569.1:p.Ala1242=
NM_001257965.2:c.3988G=	NP_001244894.1:p.Ala1330=
NR_047563.2:n.4013G=
NR_047564.2:n.4463G=
NM_001257966.2:c.2452G=	NP_001244895.1:p.Ala818=