Canonical Allele Identifier: CA1312343

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435351G>T , CM000663.2:g.197435351G>T	GRCh38
NC_000001.10:g.197404481G>T , CM000663.1:g.197404481G>T	GRCh37
NC_000001.9:g.195671104G>T	NCBI36
NG_008483.1:g.172074G>T
NG_008483.2:g.238890G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3488G>T MANE Select	NP_957705.1:p.Cys1163Phe
ENST00000367400.8:c.3488G>T MANE Select	ENSP00000356370.3:p.Cys1163Phe
NM_001193640.1:c.3152G>T	NP_001180569.1:p.Cys1051Phe
NM_001193640.2:c.3152G>T	NP_001180569.1:p.Cys1051Phe
NM_001257965.1:c.3416G>T	NP_001244894.1:p.Cys1139Phe
NM_001257965.2:c.3416G>T	NP_001244894.1:p.Cys1139Phe
NM_001257966.1:c.2129-249G>T	NP_001244895.1:n.2129-249G>T
NM_001257966.2:c.2129-249G>T	NP_001244895.1:n.2129-249G>T
NM_201253.2:c.3488G>T	NP_957705.1:p.Cys1163Phe
NR_047563.1:n.3489G>T
NR_047563.2:n.3441G>T
NR_047564.1:n.3697G>T
NR_047564.2:n.3649G>T
ENST00000367397.1:c.1631G>T	ENSP00000356367.1:p.Cys544Phe
ENST00000367399.6:c.3152G>T	ENSP00000356369.2:p.Cys1051Phe
ENST00000367400.7:c.3488G>T	ENSP00000356370.3:p.Cys1163Phe
ENST00000484075.5:c.3488G>T	ENSP00000433932.1:p.Cys1163Phe
ENST00000535699.5:c.3416G>T	ENSP00000438786.1:p.Cys1139Phe
ENST00000538660.5:c.2129-249G>T	ENSP00000438091.1:n.2129-249G>T
ENST00000638467.1:c.3488G>T	ENSP00000491102.1:p.Cys1163Phe
ENST00000681519.1:c.2369G>T	ENSP00000505267.1:p.Cys790Phe
XM_011509365.1:c.3488G>T	XP_011507667.1:p.Cys1163Phe
XM_011509365.2:c.3488G>T	XP_011507667.1:p.Cys1163Phe
XM_011509366.1:c.3488G>T	XP_011507668.1:p.Cys1163Phe
XM_011509367.1:c.3488G>T	XP_011507669.1:p.Cys1163Phe
XM_011509368.1:c.2906G>T	XP_011507670.1:p.Cys969Phe
XM_011509369.1:c.1931G>T	XP_011507671.1:p.Cys644Phe
XM_011509369.2:c.1931G>T	XP_011507671.1:p.Cys644Phe
XM_017000851.1:c.2645G>T	XP_016856340.1:p.Cys882Phe
XM_017000852.1:c.3623G>T	XP_016856341.1:p.Cys1208Phe