Canonical Allele Identifier: CA1312079

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427555C>T , CM000663.2:g.197427555C>T	GRCh38
NC_000001.10:g.197396685C>T , CM000663.1:g.197396685C>T	GRCh37
NC_000001.9:g.195663308C>T	NCBI36
NG_008483.1:g.164278C>T
NG_008483.2:g.231094C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.2230C>T MANE Select	NP_957705.1:p.Arg744Ter
ENST00000367400.8:c.2230C>T MANE Select	ENSP00000356370.3:p.Arg744Ter
NM_001193640.1:c.1894C>T	NP_001180569.1:p.Arg632Ter
NM_001193640.2:c.1894C>T	NP_001180569.1:p.Arg632Ter
NM_001257965.1:c.2023C>T	NP_001244894.1:p.Arg675Ter
NM_001257965.2:c.2023C>T	NP_001244894.1:p.Arg675Ter
NM_001257966.1:c.2128+5599C>T	NP_001244895.1:n.2128+5599C>T
NM_001257966.2:c.2128+5599C>T	NP_001244895.1:n.2128+5599C>T
NM_201253.2:c.2230C>T	NP_957705.1:p.Arg744Ter
NR_047563.1:n.2231C>T
NR_047563.2:n.2183C>T
NR_047564.1:n.2439C>T
NR_047564.2:n.2391C>T
ENST00000367397.1:c.373C>T	ENSP00000356367.1:p.Arg125Ter
ENST00000367399.6:c.1894C>T	ENSP00000356369.2:p.Arg632Ter
ENST00000367400.7:c.2230C>T	ENSP00000356370.3:p.Arg744Ter
ENST00000480086.2:n.131C>T
ENST00000484075.5:c.2230C>T	ENSP00000433932.1:p.Arg744Ter
ENST00000535699.5:c.2023C>T	ENSP00000438786.1:p.Arg675Ter
ENST00000538660.5:c.2128+5599C>T	ENSP00000438091.1:n.2128+5599C>T
ENST00000638467.1:c.2230C>T	ENSP00000491102.1:p.Arg744Ter
ENST00000681519.1:c.1111C>T	ENSP00000505267.1:p.Arg371Ter
XM_011509365.1:c.2230C>T	XP_011507667.1:p.Arg744Ter
XM_011509365.2:c.2230C>T	XP_011507667.1:p.Arg744Ter
XM_011509366.1:c.2230C>T	XP_011507668.1:p.Arg744Ter
XM_011509367.1:c.2230C>T	XP_011507669.1:p.Arg744Ter
XM_011509368.1:c.1648C>T	XP_011507670.1:p.Arg550Ter
XM_011509369.1:c.673C>T	XP_011507671.1:p.Arg225Ter
XM_011509369.2:c.673C>T	XP_011507671.1:p.Arg225Ter
XM_017000851.1:c.1387C>T	XP_016856340.1:p.Arg463Ter
XM_017000852.1:c.2230C>T	XP_016856341.1:p.Arg744Ter