Canonical Allele Identifier: CA1312260

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434877A>T , CM000663.2:g.197434877A>T	GRCh38
NC_000001.10:g.197404007A>T , CM000663.1:g.197404007A>T	GRCh37
NC_000001.9:g.195670630A>T	NCBI36
NG_008483.1:g.171600A>T
NG_008483.2:g.238416A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3014A>T MANE Select	NP_957705.1:p.Asp1005Val
ENST00000367400.8:c.3014A>T MANE Select	ENSP00000356370.3:p.Asp1005Val
NM_001193640.1:c.2678A>T	NP_001180569.1:p.Asp893Val
NM_001193640.2:c.2678A>T	NP_001180569.1:p.Asp893Val
NM_001257965.1:c.2942A>T	NP_001244894.1:p.Asp981Val
NM_001257965.2:c.2942A>T	NP_001244894.1:p.Asp981Val
NM_001257966.1:c.2129-723A>T	NP_001244895.1:n.2129-723A>T
NM_001257966.2:c.2129-723A>T	NP_001244895.1:n.2129-723A>T
NM_201253.2:c.3014A>T	NP_957705.1:p.Asp1005Val
NR_047563.1:n.3015A>T
NR_047563.2:n.2967A>T
NR_047564.1:n.3223A>T
NR_047564.2:n.3175A>T
ENST00000367397.1:c.1157A>T	ENSP00000356367.1:p.Asp386Val
ENST00000367399.6:c.2678A>T	ENSP00000356369.2:p.Asp893Val
ENST00000367400.7:c.3014A>T	ENSP00000356370.3:p.Asp1005Val
ENST00000484075.5:c.3014A>T	ENSP00000433932.1:p.Asp1005Val
ENST00000535699.5:c.2942A>T	ENSP00000438786.1:p.Asp981Val
ENST00000538660.5:c.2129-723A>T	ENSP00000438091.1:n.2129-723A>T
ENST00000638467.1:c.3014A>T	ENSP00000491102.1:p.Asp1005Val
ENST00000681519.1:c.1895A>T	ENSP00000505267.1:p.Asp632Val
XM_011509365.1:c.3014A>T	XP_011507667.1:p.Asp1005Val
XM_011509365.2:c.3014A>T	XP_011507667.1:p.Asp1005Val
XM_011509366.1:c.3014A>T	XP_011507668.1:p.Asp1005Val
XM_011509367.1:c.3014A>T	XP_011507669.1:p.Asp1005Val
XM_011509368.1:c.2432A>T	XP_011507670.1:p.Asp811Val
XM_011509369.1:c.1457A>T	XP_011507671.1:p.Asp486Val
XM_011509369.2:c.1457A>T	XP_011507671.1:p.Asp486Val
XM_017000851.1:c.2171A>T	XP_016856340.1:p.Asp724Val
XM_017000852.1:c.3149A>T	XP_016856341.1:p.Asp1050Val