Canonical Allele Identifier: CA344036635

Gene: CRB1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427534A>C , CM000663.2:g.197427534A>C	GRCh38
NC_000001.10:g.197396664A>C , CM000663.1:g.197396664A>C	GRCh37
NC_000001.9:g.195663287A>C	NCBI36
NG_008483.1:g.164257A>C
NG_008483.2:g.231073A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2209A>C MANE Select	ENSP00000356370.3:p.Ile737Leu
ENST00000638467.1:c.2209A>C	ENSP00000491102.1:p.Ile737Leu
ENST00000681519.1:c.1090A>C	ENSP00000505267.1:p.Ile364Leu
ENST00000367397.1:c.352A>C	ENSP00000356367.1:p.Ile118Leu
ENST00000367399.6:c.1873A>C	ENSP00000356369.2:p.Ile625Leu
ENST00000367400.7:c.2209A>C	ENSP00000356370.3:p.Ile737Leu
ENST00000480086.2:n.110A>C
ENST00000484075.5:c.2209A>C	ENSP00000433932.1:p.Ile737Leu
ENST00000535699.5:c.2002A>C	ENSP00000438786.1:p.Ile668Leu
ENST00000538660.5:c.2128+5578A>C	ENSP00000438091.1:n.2128+5578A>C
NM_001193640.1:c.1873A>C	NP_001180569.1:p.Ile625Leu
NM_001257965.1:c.2002A>C	NP_001244894.1:p.Ile668Leu
NM_001257966.1:c.2128+5578A>C	NP_001244895.1:n.2128+5578A>C
NM_201253.2:c.2209A>C	NP_957705.1:p.Ile737Leu
NR_047563.1:n.2210A>C
NR_047564.1:n.2418A>C
XM_011509365.1:c.2209A>C	XP_011507667.1:p.Ile737Leu
XM_011509366.1:c.2209A>C	XP_011507668.1:p.Ile737Leu
XM_011509367.1:c.2209A>C	XP_011507669.1:p.Ile737Leu
XM_011509368.1:c.1627A>C	XP_011507670.1:p.Ile543Leu
XM_011509369.1:c.652A>C	XP_011507671.1:p.Ile218Leu
XM_011509365.2:c.2209A>C	XP_011507667.1:p.Ile737Leu
XM_011509369.2:c.652A>C	XP_011507671.1:p.Ile218Leu
XM_017000851.1:c.1366A>C	XP_016856340.1:p.Ile456Leu
XM_017000852.1:c.2209A>C	XP_016856341.1:p.Ile737Leu
NM_201253.3:c.2209A>C MANE Select	NP_957705.1:p.Ile737Leu
NM_001193640.2:c.1873A>C	NP_001180569.1:p.Ile625Leu
NM_001257965.2:c.2002A>C	NP_001244894.1:p.Ile668Leu
NR_047563.2:n.2162A>C
NR_047564.2:n.2370A>C
NM_001257966.2:c.2128+5578A>C	NP_001244895.1:n.2128+5578A>C