Canonical Allele Identifier: CA1312017

Gene: CRB1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421838T>C , CM000663.2:g.197421838T>C	GRCh38
NC_000001.10:g.197390968T>C , CM000663.1:g.197390968T>C	GRCh37
NC_000001.9:g.195657591T>C	NCBI36
NG_008483.1:g.158561T>C
NG_008483.2:g.225377T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2010T>C MANE Select	ENSP00000356370.3:p.Cys670=
ENST00000638467.1:c.2010T>C	ENSP00000491102.1:p.Cys670=
ENST00000681519.1:c.891T>C	ENSP00000505267.1:p.Cys297=
ENST00000367397.1:c.153T>C	ENSP00000356367.1:p.Cys51=
ENST00000367399.6:c.1674T>C	ENSP00000356369.2:p.Cys558=
ENST00000367400.7:c.2010T>C	ENSP00000356370.3:p.Cys670=
ENST00000484075.5:c.2010T>C	ENSP00000433932.1:p.Cys670=
ENST00000535699.5:c.1803T>C	ENSP00000438786.1:p.Cys601=
ENST00000538660.5:c.2010T>C	ENSP00000438091.1:p.Cys670=
NM_001193640.1:c.1674T>C	NP_001180569.1:p.Cys558=
NM_001257965.1:c.1803T>C	NP_001244894.1:p.Cys601=
NM_001257966.1:c.2010T>C	NP_001244895.1:p.Cys670=
NM_201253.2:c.2010T>C	NP_957705.1:p.Cys670=
NR_047563.1:n.2011T>C
NR_047564.1:n.2219T>C
XM_011509365.1:c.2010T>C	XP_011507667.1:p.Cys670=
XM_011509366.1:c.2010T>C	XP_011507668.1:p.Cys670=
XM_011509367.1:c.2010T>C	XP_011507669.1:p.Cys670=
XM_011509368.1:c.1428T>C	XP_011507670.1:p.Cys476=
XM_011509369.1:c.453T>C	XP_011507671.1:p.Cys151=
XM_011509365.2:c.2010T>C	XP_011507667.1:p.Cys670=
XM_011509369.2:c.453T>C	XP_011507671.1:p.Cys151=
XM_017000851.1:c.1167T>C	XP_016856340.1:p.Cys389=
XM_017000852.1:c.2010T>C	XP_016856341.1:p.Cys670=
NM_201253.3:c.2010T>C MANE Select	NP_957705.1:p.Cys670=
NM_001193640.2:c.1674T>C	NP_001180569.1:p.Cys558=
NM_001257965.2:c.1803T>C	NP_001244894.1:p.Cys601=
NR_047563.2:n.1963T>C
NR_047564.2:n.2171T>C
NM_001257966.2:c.2010T>C	NP_001244895.1:p.Cys670=