Canonical Allele Identifier: CA344083452

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197344433C>T , CM000663.2:g.197344433C>T	GRCh38
NC_000001.10:g.197313563C>T , CM000663.1:g.197313563C>T	GRCh37
NC_000001.9:g.195580186C>T	NCBI36
NG_008483.1:g.81156C>T
NG_008483.2:g.147972C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.805C>T MANE Select	NP_957705.1:p.Gln269Ter
ENST00000367400.8:c.805C>T MANE Select	ENSP00000356370.3:p.Gln269Ter
NM_001193640.1:c.653-12398C>T	NP_001180569.1:n.653-12398C>T
NM_001193640.2:c.653-12398C>T	NP_001180569.1:n.653-12398C>T
NM_001257965.1:c.598C>T	NP_001244894.1:p.Gln200Ter
NM_001257965.2:c.598C>T	NP_001244894.1:p.Gln200Ter
NM_001257966.1:c.805C>T	NP_001244895.1:p.Gln269Ter
NM_001257966.2:c.805C>T	NP_001244895.1:p.Gln269Ter
NM_201253.2:c.805C>T	NP_957705.1:p.Gln269Ter
NR_047563.1:n.1014C>T
NR_047563.2:n.966C>T
NR_047564.1:n.1014C>T
NR_047564.2:n.966C>T
ENST00000367399.6:c.653-12398C>T	ENSP00000356369.2:n.653-12398C>T
ENST00000367400.7:c.805C>T	ENSP00000356370.3:p.Gln269Ter
ENST00000475659.1:n.942C>T
ENST00000484075.5:c.805C>T	ENSP00000433932.1:p.Gln269Ter
ENST00000535699.5:c.598C>T	ENSP00000438786.1:p.Gln200Ter
ENST00000538660.5:c.805C>T	ENSP00000438091.1:p.Gln269Ter
ENST00000638467.1:c.805C>T	ENSP00000491102.1:p.Gln269Ter
XM_011509365.1:c.805C>T	XP_011507667.1:p.Gln269Ter
XM_011509365.2:c.805C>T	XP_011507667.1:p.Gln269Ter
XM_011509366.1:c.805C>T	XP_011507668.1:p.Gln269Ter
XM_011509367.1:c.805C>T	XP_011507669.1:p.Gln269Ter
XM_011509368.1:c.223C>T	XP_011507670.1:p.Gln75Ter
XM_017000851.1:c.102C>T	XP_016856340.1:p.Val34=
XM_017000852.1:c.805C>T	XP_016856341.1:p.Gln269Ter