Canonical Allele Identifier: CA344035482

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446833G>C (hg19) ; chr1:g.197477703G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477703G>C , CM000663.2:g.197477703G>C	GRCh38
NC_000001.10:g.197446833G>C , CM000663.1:g.197446833G>C	GRCh37
NC_000001.9:g.195713456G>C	NCBI36
NG_008483.1:g.214426G>C
NG_008483.2:g.281242G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4045G>C MANE Select	ENSP00000356370.3:p.Gly1349Arg
ENST00000367399.6:c.3709G>C	ENSP00000356369.2:p.Gly1237Arg
ENST00000367400.7:c.4045G>C	ENSP00000356370.3:p.Gly1349Arg
ENST00000448952.1:c.279G>C	ENSP00000395407.1:n.279G>C
ENST00000484075.5:c.*156G>C	ENSP00000433932.1:n.*156G>C
ENST00000535699.5:c.3973G>C	ENSP00000438786.1:p.Gly1325Arg
ENST00000538660.5:c.2437G>C	ENSP00000438091.1:p.Gly813Arg
NM_001193640.1:c.3709G>C	NP_001180569.1:p.Gly1237Arg
NM_001257965.1:c.3973G>C	NP_001244894.1:p.Gly1325Arg
NM_001257966.1:c.2437G>C	NP_001244895.1:p.Gly813Arg
NM_201253.2:c.4045G>C	NP_957705.1:p.Gly1349Arg
NR_047563.1:n.4046G>C
NR_047564.1:n.4496G>C
XM_011509366.1:c.*150G>C	XP_011507668.1:n.*150G>C
XM_011509367.1:c.*24G>C	XP_011507669.1:n.*24G>C
XM_011509368.1:c.3463G>C	XP_011507670.1:p.Gly1155Arg
XM_011509369.1:c.2488G>C	XP_011507671.1:p.Gly830Arg
XM_011509369.2:c.2488G>C	XP_011507671.1:p.Gly830Arg
XM_017000851.1:c.3202G>C	XP_016856340.1:p.Gly1068Arg
XM_017000852.1:c.4180G>C	XP_016856341.1:p.Gly1394Arg
NM_201253.3:c.4045G>C MANE Select	NP_957705.1:p.Gly1349Arg
NM_001193640.2:c.3709G>C	NP_001180569.1:p.Gly1237Arg
NM_001257965.2:c.3973G>C	NP_001244894.1:p.Gly1325Arg
NR_047563.2:n.3998G>C
NR_047564.2:n.4448G>C
NM_001257966.2:c.2437G>C	NP_001244895.1:p.Gly813Arg