Canonical Allele Identifier: CA344041268

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197429578G>T , CM000663.2:g.197429578G>T	GRCh38
NC_000001.10:g.197398708G>T , CM000663.1:g.197398708G>T	GRCh37
NC_000001.9:g.195665331G>T	NCBI36
NG_008483.1:g.166301G>T
NG_008483.2:g.233117G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.2806G>T MANE Select	NP_957705.1:p.Gly936Ter
ENST00000367400.8:c.2806G>T MANE Select	ENSP00000356370.3:p.Gly936Ter
NM_001193640.1:c.2470G>T	NP_001180569.1:p.Gly824Ter
NM_001193640.2:c.2470G>T	NP_001180569.1:p.Gly824Ter
NM_001257965.1:c.2734G>T	NP_001244894.1:p.Gly912Ter
NM_001257965.2:c.2734G>T	NP_001244894.1:p.Gly912Ter
NM_001257966.1:c.2129-6022G>T	NP_001244895.1:n.2129-6022G>T
NM_001257966.2:c.2129-6022G>T	NP_001244895.1:n.2129-6022G>T
NM_201253.2:c.2806G>T	NP_957705.1:p.Gly936Ter
NR_047563.1:n.2807G>T
NR_047563.2:n.2759G>T
NR_047564.1:n.3015G>T
NR_047564.2:n.2967G>T
ENST00000367397.1:c.949G>T	ENSP00000356367.1:p.Gly317Ter
ENST00000367399.6:c.2470G>T	ENSP00000356369.2:p.Gly824Ter
ENST00000367400.7:c.2806G>T	ENSP00000356370.3:p.Gly936Ter
ENST00000484075.5:c.2806G>T	ENSP00000433932.1:p.Gly936Ter
ENST00000535699.5:c.2734G>T	ENSP00000438786.1:p.Gly912Ter
ENST00000538660.5:c.2129-6022G>T	ENSP00000438091.1:n.2129-6022G>T
ENST00000638467.1:c.2806G>T	ENSP00000491102.1:p.Gly936Ter
ENST00000681519.1:c.1687G>T	ENSP00000505267.1:p.Gly563Ter
XM_011509365.1:c.2806G>T	XP_011507667.1:p.Gly936Ter
XM_011509365.2:c.2806G>T	XP_011507667.1:p.Gly936Ter
XM_011509366.1:c.2806G>T	XP_011507668.1:p.Gly936Ter
XM_011509367.1:c.2806G>T	XP_011507669.1:p.Gly936Ter
XM_011509368.1:c.2224G>T	XP_011507670.1:p.Gly742Ter
XM_011509369.1:c.1249G>T	XP_011507671.1:p.Gly417Ter
XM_011509369.2:c.1249G>T	XP_011507671.1:p.Gly417Ter
XM_017000851.1:c.1963G>T	XP_016856340.1:p.Gly655Ter
XM_017000852.1:c.2941G>T	XP_016856341.1:p.Gly981Ter