Canonical Allele Identifier: CA1218087218

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477679A= , CM000663.2:g.197477679A=	GRCh38
NC_000001.10:g.197446809A= , CM000663.1:g.197446809A=	GRCh37
NC_000001.9:g.195713432A=	NCBI36
NG_008483.1:g.214402A=
NG_008483.2:g.281218A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4021A= MANE Select	ENSP00000356370.3:p.Ile1341=
ENST00000367399.6:c.3685A=	ENSP00000356369.2:p.Ile1229=
ENST00000367400.7:c.4021A=	ENSP00000356370.3:p.Ile1341=
ENST00000448952.1:c.255A=	ENSP00000395407.1:n.255A=
ENST00000484075.5:c.*132A=	ENSP00000433932.1:n.*132A=
ENST00000535699.5:c.3949A=	ENSP00000438786.1:p.Ile1317=
ENST00000538660.5:c.2413A=	ENSP00000438091.1:p.Ile805=
NM_001193640.1:c.3685A=	NP_001180569.1:p.Ile1229=
NM_001257965.1:c.3949A=	NP_001244894.1:p.Ile1317=
NM_001257966.1:c.2413A=	NP_001244895.1:p.Ile805=
NM_201253.2:c.4021A=	NP_957705.1:p.Ile1341=
NR_047563.1:n.4022A=
NR_047564.1:n.4472A=
XM_011509366.1:c.*126A=	XP_011507668.1:n.*126A=
XM_011509367.1:c.3894A=	XP_011507669.1:p.Ter1298=
XM_011509368.1:c.3439A=	XP_011507670.1:p.Ile1147=
XM_011509369.1:c.2464A=	XP_011507671.1:p.Ile822=
XM_011509369.2:c.2464A=	XP_011507671.1:p.Ile822=
XM_017000851.1:c.3178A=	XP_016856340.1:p.Ile1060=
XM_017000852.1:c.4156A=	XP_016856341.1:p.Ile1386=
NM_201253.3:c.4021A= MANE Select	NP_957705.1:p.Ile1341=
NM_001193640.2:c.3685A=	NP_001180569.1:p.Ile1229=
NM_001257965.2:c.3949A=	NP_001244894.1:p.Ile1317=
NR_047563.2:n.3974A=
NR_047564.2:n.4424A=
NM_001257966.2:c.2413A=	NP_001244895.1:p.Ile805=