Canonical Allele Identifier: CA422672558

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197403939A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434809A>C , CM000663.2:g.197434809A>C	GRCh38
NC_000001.10:g.197403939A>C , CM000663.1:g.197403939A>C	GRCh37
NC_000001.9:g.195670562A>C	NCBI36
NG_008483.1:g.171532A>C
NG_008483.2:g.238348A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2946A>C MANE Select	ENSP00000356370.3:p.Thr982=
ENST00000638467.1:c.2946A>C	ENSP00000491102.1:p.Thr982=
ENST00000681519.1:c.1827A>C	ENSP00000505267.1:p.Thr609=
ENST00000367397.1:c.1089A>C	ENSP00000356367.1:p.Thr363=
ENST00000367399.6:c.2610A>C	ENSP00000356369.2:p.Thr870=
ENST00000367400.7:c.2946A>C	ENSP00000356370.3:p.Thr982=
ENST00000484075.5:c.2946A>C	ENSP00000433932.1:p.Thr982=
ENST00000535699.5:c.2874A>C	ENSP00000438786.1:p.Thr958=
ENST00000538660.5:c.2129-791A>C	ENSP00000438091.1:n.2129-791A>C
NM_001193640.1:c.2610A>C	NP_001180569.1:p.Thr870=
NM_001257965.1:c.2874A>C	NP_001244894.1:p.Thr958=
NM_001257966.1:c.2129-791A>C	NP_001244895.1:n.2129-791A>C
NM_201253.2:c.2946A>C	NP_957705.1:p.Thr982=
NR_047563.1:n.2947A>C
NR_047564.1:n.3155A>C
XM_011509365.1:c.2946A>C	XP_011507667.1:p.Thr982=
XM_011509366.1:c.2946A>C	XP_011507668.1:p.Thr982=
XM_011509367.1:c.2946A>C	XP_011507669.1:p.Thr982=
XM_011509368.1:c.2364A>C	XP_011507670.1:p.Thr788=
XM_011509369.1:c.1389A>C	XP_011507671.1:p.Thr463=
XM_011509365.2:c.2946A>C	XP_011507667.1:p.Thr982=
XM_011509369.2:c.1389A>C	XP_011507671.1:p.Thr463=
XM_017000851.1:c.2103A>C	XP_016856340.1:p.Thr701=
XM_017000852.1:c.3081A>C	XP_016856341.1:p.Thr1027=
NM_201253.3:c.2946A>C MANE Select	NP_957705.1:p.Thr982=
NM_001193640.2:c.2610A>C	NP_001180569.1:p.Thr870=
NM_001257965.2:c.2874A>C	NP_001244894.1:p.Thr958=
NR_047563.2:n.2899A>C
NR_047564.2:n.3107A>C
NM_001257966.2:c.2129-791A>C	NP_001244895.1:n.2129-791A>C