Canonical Allele Identifier: CA1312457

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197442278C>T , CM000663.2:g.197442278C>T	GRCh38
NC_000001.10:g.197411408C>T , CM000663.1:g.197411408C>T	GRCh37
NC_000001.9:g.195678031C>T	NCBI36
NG_008483.1:g.179001C>T
NG_008483.2:g.245817C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3991C>T MANE Select	NP_957705.1:p.Arg1331Cys
ENST00000367400.8:c.3991C>T MANE Select	ENSP00000356370.3:p.Arg1331Cys
NM_001193640.1:c.3655C>T	NP_001180569.1:p.Arg1219Cys
NM_001193640.2:c.3655C>T	NP_001180569.1:p.Arg1219Cys
NM_001257965.1:c.3919C>T	NP_001244894.1:p.Arg1307Cys
NM_001257965.2:c.3919C>T	NP_001244894.1:p.Arg1307Cys
NM_001257966.1:c.2383C>T	NP_001244895.1:p.Arg795Cys
NM_001257966.2:c.2383C>T	NP_001244895.1:p.Arg795Cys
NM_201253.2:c.3991C>T	NP_957705.1:p.Arg1331Cys
NR_047563.1:n.3992C>T
NR_047563.2:n.3944C>T
NR_047564.1:n.4200C>T
NR_047564.2:n.4152C>T
ENST00000367397.1:c.*3599C>T	ENSP00000356367.1:n.*3599C>T
ENST00000367399.6:c.3655C>T	ENSP00000356369.2:p.Arg1219Cys
ENST00000367400.7:c.3991C>T	ENSP00000356370.3:p.Arg1331Cys
ENST00000448952.1:c.109C>T	ENSP00000395407.1:p.Arg37Cys
ENST00000484075.5:c.3991C>T	ENSP00000433932.1:p.Arg1331Cys
ENST00000535699.5:c.3919C>T	ENSP00000438786.1:p.Arg1307Cys
ENST00000538660.5:c.2383C>T	ENSP00000438091.1:p.Arg795Cys
ENST00000638467.1:c.3991C>T	ENSP00000491102.1:p.Arg1331Cys
ENST00000681519.1:c.2872C>T	ENSP00000505267.1:p.Arg958Cys
XM_011509365.1:c.3991C>T	XP_011507667.1:p.Arg1331Cys
XM_011509365.2:c.3991C>T	XP_011507667.1:p.Arg1331Cys
XM_011509366.1:c.3991C>T	XP_011507668.1:p.Arg1331Cys
XM_011509367.1:c.3878+3603C>T	XP_011507669.1:n.3878+3603C>T
XM_011509368.1:c.3409C>T	XP_011507670.1:p.Arg1137Cys
XM_011509369.1:c.2434C>T	XP_011507671.1:p.Arg812Cys
XM_011509369.2:c.2434C>T	XP_011507671.1:p.Arg812Cys
XM_017000851.1:c.3148C>T	XP_016856340.1:p.Arg1050Cys
XM_017000852.1:c.4126C>T	XP_016856341.1:p.Arg1376Cys