Canonical Allele Identifier: CA344035483

Gene: CRB1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4045G>T MANE Select	ENSP00000356370.3:p.Gly1349Cys
ENST00000367399.6:c.3709G>T	ENSP00000356369.2:p.Gly1237Cys
ENST00000367400.7:c.4045G>T	ENSP00000356370.3:p.Gly1349Cys
ENST00000448952.1:c.279G>T	ENSP00000395407.1:n.279G>T
ENST00000484075.5:c.*156G>T	ENSP00000433932.1:n.*156G>T
ENST00000535699.5:c.3973G>T	ENSP00000438786.1:p.Gly1325Cys
ENST00000538660.5:c.2437G>T	ENSP00000438091.1:p.Gly813Cys
NM_001193640.1:c.3709G>T	NP_001180569.1:p.Gly1237Cys
NM_001257965.1:c.3973G>T	NP_001244894.1:p.Gly1325Cys
NM_001257966.1:c.2437G>T	NP_001244895.1:p.Gly813Cys
NM_201253.2:c.4045G>T	NP_957705.1:p.Gly1349Cys
NR_047563.1:n.4046G>T
NR_047564.1:n.4496G>T
XM_011509366.1:c.*150G>T	XP_011507668.1:n.*150G>T
XM_011509367.1:c.*24G>T	XP_011507669.1:n.*24G>T
XM_011509368.1:c.3463G>T	XP_011507670.1:p.Gly1155Cys
XM_011509369.1:c.2488G>T	XP_011507671.1:p.Gly830Cys
XM_011509369.2:c.2488G>T	XP_011507671.1:p.Gly830Cys
XM_017000851.1:c.3202G>T	XP_016856340.1:p.Gly1068Cys
XM_017000852.1:c.4180G>T	XP_016856341.1:p.Gly1394Cys
NM_201253.3:c.4045G>T MANE Select	NP_957705.1:p.Gly1349Cys
NM_001193640.2:c.3709G>T	NP_001180569.1:p.Gly1237Cys
NM_001257965.2:c.3973G>T	NP_001244894.1:p.Gly1325Cys
NR_047563.2:n.3998G>T
NR_047564.2:n.4448G>T
NM_001257966.2:c.2437G>T	NP_001244895.1:p.Gly813Cys