Canonical Allele Identifier: CA344084251

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197347466T>A , CM000663.2:g.197347466T>A	GRCh38
NC_000001.10:g.197316596T>A , CM000663.1:g.197316596T>A	GRCh37
NC_000001.9:g.195583219T>A	NCBI36
NG_008483.1:g.84189T>A
NG_008483.2:g.151005T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.975T>A MANE Select	NP_957705.1:p.Cys325Ter
ENST00000367400.8:c.975T>A MANE Select	ENSP00000356370.3:p.Cys325Ter
NM_001193640.1:c.653-9365T>A	NP_001180569.1:n.653-9365T>A
NM_001193640.2:c.653-9365T>A	NP_001180569.1:n.653-9365T>A
NM_001257965.1:c.768T>A	NP_001244894.1:p.Cys256Ter
NM_001257965.2:c.768T>A	NP_001244894.1:p.Cys256Ter
NM_001257966.1:c.975T>A	NP_001244895.1:p.Cys325Ter
NM_001257966.2:c.975T>A	NP_001244895.1:p.Cys325Ter
NM_201253.2:c.975T>A	NP_957705.1:p.Cys325Ter
NR_047563.1:n.1184T>A
NR_047563.2:n.1136T>A
NR_047564.1:n.1184T>A
NR_047564.2:n.1136T>A
ENST00000367399.6:c.653-9365T>A	ENSP00000356369.2:n.653-9365T>A
ENST00000367400.7:c.975T>A	ENSP00000356370.3:p.Cys325Ter
ENST00000475659.1:n.1112T>A
ENST00000484075.5:c.975T>A	ENSP00000433932.1:p.Cys325Ter
ENST00000535699.5:c.768T>A	ENSP00000438786.1:p.Cys256Ter
ENST00000538660.5:c.975T>A	ENSP00000438091.1:p.Cys325Ter
ENST00000638467.1:c.975T>A	ENSP00000491102.1:p.Cys325Ter
XM_011509365.1:c.975T>A	XP_011507667.1:p.Cys325Ter
XM_011509365.2:c.975T>A	XP_011507667.1:p.Cys325Ter
XM_011509366.1:c.975T>A	XP_011507668.1:p.Cys325Ter
XM_011509367.1:c.975T>A	XP_011507669.1:p.Cys325Ter
XM_011509368.1:c.393T>A	XP_011507670.1:p.Cys131Ter
XM_017000851.1:c.145+2990T>A	XP_016856340.1:n.145+2990T>A
XM_017000852.1:c.975T>A	XP_016856341.1:p.Cys325Ter