Canonical Allele Identifier: CA1312569

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477826C>T , CM000663.2:g.197477826C>T	GRCh38
NC_000001.10:g.197446956C>T , CM000663.1:g.197446956C>T	GRCh37
NC_000001.9:g.195713579C>T	NCBI36
NG_008483.1:g.214549C>T
NG_008483.2:g.281365C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.4168C>T MANE Select	NP_957705.1:p.Arg1390Ter
ENST00000367400.8:c.4168C>T MANE Select	ENSP00000356370.3:p.Arg1390Ter
NM_001193640.1:c.3832C>T	NP_001180569.1:p.Arg1278Ter
NM_001193640.2:c.3832C>T	NP_001180569.1:p.Arg1278Ter
NM_001257965.1:c.4096C>T	NP_001244894.1:p.Arg1366Ter
NM_001257965.2:c.4096C>T	NP_001244894.1:p.Arg1366Ter
NM_001257966.1:c.2560C>T	NP_001244895.1:p.Arg854Ter
NM_001257966.2:c.2560C>T	NP_001244895.1:p.Arg854Ter
NM_201253.2:c.4168C>T	NP_957705.1:p.Arg1390Ter
NR_047563.1:n.4169C>T
NR_047563.2:n.4121C>T
NR_047564.1:n.4619C>T
NR_047564.2:n.4571C>T
ENST00000367399.6:c.3832C>T	ENSP00000356369.2:p.Arg1278Ter
ENST00000367400.7:c.4168C>T	ENSP00000356370.3:p.Arg1390Ter
ENST00000448952.1:c.402C>T	ENSP00000395407.1:n.402C>T
ENST00000484075.5:c.*279C>T	ENSP00000433932.1:n.*279C>T
ENST00000535699.5:c.4096C>T	ENSP00000438786.1:p.Arg1366Ter
ENST00000538660.5:c.2560C>T	ENSP00000438091.1:p.Arg854Ter
XM_011509366.1:c.*273C>T	XP_011507668.1:n.*273C>T
XM_011509367.1:c.*147C>T	XP_011507669.1:n.*147C>T
XM_011509368.1:c.3586C>T	XP_011507670.1:p.Arg1196Ter
XM_011509369.1:c.2611C>T	XP_011507671.1:p.Arg871Ter
XM_011509369.2:c.2611C>T	XP_011507671.1:p.Arg871Ter
XM_017000851.1:c.3325C>T	XP_016856340.1:p.Arg1109Ter
XM_017000852.1:c.4303C>T	XP_016856341.1:p.Arg1435Ter