Canonical Allele Identifier: CA1311807

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197356938A>C , CM000663.2:g.197356938A>C	GRCh38
NC_000001.10:g.197326068A>C , CM000663.1:g.197326068A>C	GRCh37
NC_000001.9:g.195592691A>C	NCBI36
NG_008483.1:g.93661A>C
NG_008483.2:g.160477A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.1096A>C MANE Select	NP_957705.1:p.Ile366Leu
ENST00000367400.8:c.1096A>C MANE Select	ENSP00000356370.3:p.Ile366Leu
NM_001193640.1:c.760A>C	NP_001180569.1:p.Ile254Leu
NM_001193640.2:c.760A>C	NP_001180569.1:p.Ile254Leu
NM_001257965.1:c.889A>C	NP_001244894.1:p.Ile297Leu
NM_001257965.2:c.889A>C	NP_001244894.1:p.Ile297Leu
NM_001257966.1:c.1096A>C	NP_001244895.1:p.Ile366Leu
NM_001257966.2:c.1096A>C	NP_001244895.1:p.Ile366Leu
NM_201253.2:c.1096A>C	NP_957705.1:p.Ile366Leu
NR_047563.1:n.1305A>C
NR_047563.2:n.1257A>C
NR_047564.1:n.1305A>C
NR_047564.2:n.1257A>C
ENST00000367399.6:c.760A>C	ENSP00000356369.2:p.Ile254Leu
ENST00000367400.7:c.1096A>C	ENSP00000356370.3:p.Ile366Leu
ENST00000475659.1:n.1233A>C
ENST00000484075.5:c.1096A>C	ENSP00000433932.1:p.Ile366Leu
ENST00000535699.5:c.889A>C	ENSP00000438786.1:p.Ile297Leu
ENST00000538660.5:c.1096A>C	ENSP00000438091.1:p.Ile366Leu
ENST00000638467.1:c.1096A>C	ENSP00000491102.1:p.Ile366Leu
XM_011509365.1:c.1096A>C	XP_011507667.1:p.Ile366Leu
XM_011509365.2:c.1096A>C	XP_011507667.1:p.Ile366Leu
XM_011509366.1:c.1096A>C	XP_011507668.1:p.Ile366Leu
XM_011509367.1:c.1096A>C	XP_011507669.1:p.Ile366Leu
XM_011509368.1:c.514A>C	XP_011507670.1:p.Ile172Leu
XM_017000851.1:c.253A>C	XP_016856340.1:p.Ile85Leu
XM_017000852.1:c.1096A>C	XP_016856341.1:p.Ile366Leu