Canonical Allele Identifier: CA1218068846

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435233C= , CM000663.2:g.197435233C=	GRCh38
NC_000001.10:g.197404363C= , CM000663.1:g.197404363C=	GRCh37
NC_000001.9:g.195670986C=	NCBI36
NG_008483.1:g.171956C=
NG_008483.2:g.238772C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3370C= MANE Select	ENSP00000356370.3:p.Gln1124=
ENST00000638467.1:c.3370C=	ENSP00000491102.1:p.Gln1124=
ENST00000681519.1:c.2251C=	ENSP00000505267.1:p.Gln751=
ENST00000367397.1:c.1513C=	ENSP00000356367.1:p.Gln505=
ENST00000367399.6:c.3034C=	ENSP00000356369.2:p.Gln1012=
ENST00000367400.7:c.3370C=	ENSP00000356370.3:p.Gln1124=
ENST00000484075.5:c.3370C=	ENSP00000433932.1:p.Gln1124=
ENST00000535699.5:c.3298C=	ENSP00000438786.1:p.Gln1100=
ENST00000538660.5:c.2129-367C=	ENSP00000438091.1:n.2129-367C=
NM_001193640.1:c.3034C=	NP_001180569.1:p.Gln1012=
NM_001257965.1:c.3298C=	NP_001244894.1:p.Gln1100=
NM_001257966.1:c.2129-367C=	NP_001244895.1:n.2129-367C=
NM_201253.2:c.3370C=	NP_957705.1:p.Gln1124=
NR_047563.1:n.3371C=
NR_047564.1:n.3579C=
XM_011509365.1:c.3370C=	XP_011507667.1:p.Gln1124=
XM_011509366.1:c.3370C=	XP_011507668.1:p.Gln1124=
XM_011509367.1:c.3370C=	XP_011507669.1:p.Gln1124=
XM_011509368.1:c.2788C=	XP_011507670.1:p.Gln930=
XM_011509369.1:c.1813C=	XP_011507671.1:p.Gln605=
XM_011509365.2:c.3370C=	XP_011507667.1:p.Gln1124=
XM_011509369.2:c.1813C=	XP_011507671.1:p.Gln605=
XM_017000851.1:c.2527C=	XP_016856340.1:p.Gln843=
XM_017000852.1:c.3505C=	XP_016856341.1:p.Gln1169=
NM_201253.3:c.3370C= MANE Select	NP_957705.1:p.Gln1124=
NM_001193640.2:c.3034C=	NP_001180569.1:p.Gln1012=
NM_001257965.2:c.3298C=	NP_001244894.1:p.Gln1100=
NR_047563.2:n.3323C=
NR_047564.2:n.3531C=
NM_001257966.2:c.2129-367C=	NP_001244895.1:n.2129-367C=