Canonical Allele Identifier: CA1312029

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421882G>C , CM000663.2:g.197421882G>C	GRCh38
NC_000001.10:g.197391012G>C , CM000663.1:g.197391012G>C	GRCh37
NC_000001.9:g.195657635G>C	NCBI36
NG_008483.1:g.158605G>C
NG_008483.2:g.225421G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.2054G>C MANE Select	NP_957705.1:p.Gly685Ala
ENST00000367400.8:c.2054G>C MANE Select	ENSP00000356370.3:p.Gly685Ala
NM_001193640.1:c.1718G>C	NP_001180569.1:p.Gly573Ala
NM_001193640.2:c.1718G>C	NP_001180569.1:p.Gly573Ala
NM_001257965.1:c.1847G>C	NP_001244894.1:p.Gly616Ala
NM_001257965.2:c.1847G>C	NP_001244894.1:p.Gly616Ala
NM_001257966.1:c.2054G>C	NP_001244895.1:p.Gly685Ala
NM_001257966.2:c.2054G>C	NP_001244895.1:p.Gly685Ala
NM_201253.2:c.2054G>C	NP_957705.1:p.Gly685Ala
NR_047563.1:n.2055G>C
NR_047563.2:n.2007G>C
NR_047564.1:n.2263G>C
NR_047564.2:n.2215G>C
ENST00000367397.1:c.197G>C	ENSP00000356367.1:p.Gly66Ala
ENST00000367399.6:c.1718G>C	ENSP00000356369.2:p.Gly573Ala
ENST00000367400.7:c.2054G>C	ENSP00000356370.3:p.Gly685Ala
ENST00000484075.5:c.2054G>C	ENSP00000433932.1:p.Gly685Ala
ENST00000535699.5:c.1847G>C	ENSP00000438786.1:p.Gly616Ala
ENST00000538660.5:c.2054G>C	ENSP00000438091.1:p.Gly685Ala
ENST00000638467.1:c.2054G>C	ENSP00000491102.1:p.Gly685Ala
ENST00000681519.1:c.935G>C	ENSP00000505267.1:p.Gly312Ala
XM_011509365.1:c.2054G>C	XP_011507667.1:p.Gly685Ala
XM_011509365.2:c.2054G>C	XP_011507667.1:p.Gly685Ala
XM_011509366.1:c.2054G>C	XP_011507668.1:p.Gly685Ala
XM_011509367.1:c.2054G>C	XP_011507669.1:p.Gly685Ala
XM_011509368.1:c.1472G>C	XP_011507670.1:p.Gly491Ala
XM_011509369.1:c.497G>C	XP_011507671.1:p.Gly166Ala
XM_011509369.2:c.497G>C	XP_011507671.1:p.Gly166Ala
XM_017000851.1:c.1211G>C	XP_016856340.1:p.Gly404Ala
XM_017000852.1:c.2054G>C	XP_016856341.1:p.Gly685Ala