Canonical Allele Identifier: CA344052568

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197442223C>G , CM000663.2:g.197442223C>G	GRCh38
NC_000001.10:g.197411353C>G , CM000663.1:g.197411353C>G	GRCh37
NC_000001.9:g.195677976C>G	NCBI36
NG_008483.1:g.178946C>G
NG_008483.2:g.245762C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3936C>G MANE Select	NP_957705.1:p.Cys1312Trp
ENST00000367400.8:c.3936C>G MANE Select	ENSP00000356370.3:p.Cys1312Trp
NM_001193640.1:c.3600C>G	NP_001180569.1:p.Cys1200Trp
NM_001193640.2:c.3600C>G	NP_001180569.1:p.Cys1200Trp
NM_001257965.1:c.3864C>G	NP_001244894.1:p.Cys1288Trp
NM_001257965.2:c.3864C>G	NP_001244894.1:p.Cys1288Trp
NM_001257966.1:c.2328C>G	NP_001244895.1:p.Cys776Trp
NM_001257966.2:c.2328C>G	NP_001244895.1:p.Cys776Trp
NM_201253.2:c.3936C>G	NP_957705.1:p.Cys1312Trp
NR_047563.1:n.3937C>G
NR_047563.2:n.3889C>G
NR_047564.1:n.4145C>G
NR_047564.2:n.4097C>G
ENST00000367397.1:c.*3544C>G	ENSP00000356367.1:n.*3544C>G
ENST00000367399.6:c.3600C>G	ENSP00000356369.2:p.Cys1200Trp
ENST00000367400.7:c.3936C>G	ENSP00000356370.3:p.Cys1312Trp
ENST00000448952.1:c.54C>G	ENSP00000395407.1:p.Cys18Trp
ENST00000484075.5:c.3936C>G	ENSP00000433932.1:p.Cys1312Trp
ENST00000535699.5:c.3864C>G	ENSP00000438786.1:p.Cys1288Trp
ENST00000538660.5:c.2328C>G	ENSP00000438091.1:p.Cys776Trp
ENST00000638467.1:c.3936C>G	ENSP00000491102.1:p.Cys1312Trp
ENST00000681519.1:c.2817C>G	ENSP00000505267.1:p.Cys939Trp
XM_011509365.1:c.3936C>G	XP_011507667.1:p.Cys1312Trp
XM_011509365.2:c.3936C>G	XP_011507667.1:p.Cys1312Trp
XM_011509366.1:c.3936C>G	XP_011507668.1:p.Cys1312Trp
XM_011509367.1:c.3878+3548C>G	XP_011507669.1:n.3878+3548C>G
XM_011509368.1:c.3354C>G	XP_011507670.1:p.Cys1118Trp
XM_011509369.1:c.2379C>G	XP_011507671.1:p.Cys793Trp
XM_011509369.2:c.2379C>G	XP_011507671.1:p.Cys793Trp
XM_017000851.1:c.3093C>G	XP_016856340.1:p.Cys1031Trp
XM_017000852.1:c.4071C>G	XP_016856341.1:p.Cys1357Trp