Canonical Allele Identifier: CA422677623

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197447000A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477870A>G , CM000663.2:g.197477870A>G	GRCh38
NC_000001.10:g.197447000A>G , CM000663.1:g.197447000A>G	GRCh37
NC_000001.9:g.195713623A>G	NCBI36
NG_008483.1:g.214593A>G
NG_008483.2:g.281409A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4212A>G MANE Select	ENSP00000356370.3:p.Arg1404=
ENST00000367399.6:c.3876A>G	ENSP00000356369.2:p.Arg1292=
ENST00000367400.7:c.4212A>G	ENSP00000356370.3:p.Arg1404=
ENST00000448952.1:c.446A>G	ENSP00000395407.1:n.446A>G
ENST00000484075.5:c.*323A>G	ENSP00000433932.1:n.*323A>G
ENST00000535699.5:c.4140A>G	ENSP00000438786.1:p.Arg1380=
ENST00000538660.5:c.2604A>G	ENSP00000438091.1:p.Arg868=
NM_001193640.1:c.3876A>G	NP_001180569.1:p.Arg1292=
NM_001257965.1:c.4140A>G	NP_001244894.1:p.Arg1380=
NM_001257966.1:c.2604A>G	NP_001244895.1:p.Arg868=
NM_201253.2:c.4212A>G	NP_957705.1:p.Arg1404=
NR_047563.1:n.4213A>G
NR_047564.1:n.4663A>G
XM_011509366.1:c.*317A>G	XP_011507668.1:n.*317A>G
XM_011509367.1:c.*191A>G	XP_011507669.1:n.*191A>G
XM_011509368.1:c.3630A>G	XP_011507670.1:p.Arg1210=
XM_011509369.1:c.2655A>G	XP_011507671.1:p.Arg885=
XM_011509369.2:c.2655A>G	XP_011507671.1:p.Arg885=
XM_017000851.1:c.3369A>G	XP_016856340.1:p.Arg1123=
XM_017000852.1:c.4347A>G	XP_016856341.1:p.Arg1449=
NM_201253.3:c.4212A>G MANE Select	NP_957705.1:p.Arg1404=
NM_001193640.2:c.3876A>G	NP_001180569.1:p.Arg1292=
NM_001257965.2:c.4140A>G	NP_001244894.1:p.Arg1380=
NR_047563.2:n.4165A>G
NR_047564.2:n.4615A>G
NM_001257966.2:c.2604A>G	NP_001244895.1:p.Arg868=