Canonical Allele Identifier: CA422821589

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197328564A>G , CM000663.2:g.197328564A>G	GRCh38
NC_000001.10:g.197297694A>G , CM000663.1:g.197297694A>G	GRCh37
NC_000001.9:g.195564317A>G	NCBI36
NG_008483.1:g.65287A>G
NG_008483.2:g.132103A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.213A>G MANE Select	ENSP00000356370.3:p.Lys71=
ENST00000638467.1:c.213A>G	ENSP00000491102.1:p.Lys71=
ENST00000367399.6:c.213A>G	ENSP00000356369.2:p.Lys71=
ENST00000367400.7:c.213A>G	ENSP00000356370.3:p.Lys71=
ENST00000475659.1:n.350A>G
ENST00000484075.5:c.213A>G	ENSP00000433932.1:p.Lys71=
ENST00000535699.5:c.6A>G	ENSP00000438786.1:p.Lys2=
ENST00000538660.5:c.213A>G	ENSP00000438091.1:p.Lys71=
NM_001193640.1:c.213A>G	NP_001180569.1:p.Lys71=
NM_001257965.1:c.6A>G	NP_001244894.1:p.Lys2=
NM_001257966.1:c.213A>G	NP_001244895.1:p.Lys71=
NM_201253.2:c.213A>G	NP_957705.1:p.Lys71=
NR_047563.1:n.422A>G
NR_047564.1:n.422A>G
XM_011509365.1:c.213A>G	XP_011507667.1:p.Lys71=
XM_011509366.1:c.213A>G	XP_011507668.1:p.Lys71=
XM_011509367.1:c.213A>G	XP_011507669.1:p.Lys71=
XM_011509368.1:c.71-15717A>G	XP_011507670.1:n.71-15717A>G
XM_011509365.2:c.213A>G	XP_011507667.1:p.Lys71=
XM_017000851.1:c.-491A>G	XP_016856340.1:n.-491A>G
XM_017000852.1:c.213A>G	XP_016856341.1:p.Lys71=
NM_201253.3:c.213A>G MANE Select	NP_957705.1:p.Lys71=
NM_001193640.2:c.213A>G	NP_001180569.1:p.Lys71=
NM_001257965.2:c.6A>G	NP_001244894.1:p.Lys2=
NR_047563.2:n.374A>G
NR_047564.2:n.374A>G
NM_001257966.2:c.213A>G	NP_001244895.1:p.Lys71=