Canonical Allele Identifier: CA344035754

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446926A>C (hg19) ; chr1:g.197477796A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477796A>C , CM000663.2:g.197477796A>C	GRCh38
NC_000001.10:g.197446926A>C , CM000663.1:g.197446926A>C	GRCh37
NC_000001.9:g.195713549A>C	NCBI36
NG_008483.1:g.214519A>C
NG_008483.2:g.281335A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4138A>C MANE Select	ENSP00000356370.3:p.Ser1380Arg
ENST00000367399.6:c.3802A>C	ENSP00000356369.2:p.Ser1268Arg
ENST00000367400.7:c.4138A>C	ENSP00000356370.3:p.Ser1380Arg
ENST00000448952.1:c.372A>C	ENSP00000395407.1:n.372A>C
ENST00000484075.5:c.*249A>C	ENSP00000433932.1:n.*249A>C
ENST00000535699.5:c.4066A>C	ENSP00000438786.1:p.Ser1356Arg
ENST00000538660.5:c.2530A>C	ENSP00000438091.1:p.Ser844Arg
NM_001193640.1:c.3802A>C	NP_001180569.1:p.Ser1268Arg
NM_001257965.1:c.4066A>C	NP_001244894.1:p.Ser1356Arg
NM_001257966.1:c.2530A>C	NP_001244895.1:p.Ser844Arg
NM_201253.2:c.4138A>C	NP_957705.1:p.Ser1380Arg
NR_047563.1:n.4139A>C
NR_047564.1:n.4589A>C
XM_011509366.1:c.*243A>C	XP_011507668.1:n.*243A>C
XM_011509367.1:c.*117A>C	XP_011507669.1:n.*117A>C
XM_011509368.1:c.3556A>C	XP_011507670.1:p.Ser1186Arg
XM_011509369.1:c.2581A>C	XP_011507671.1:p.Ser861Arg
XM_011509369.2:c.2581A>C	XP_011507671.1:p.Ser861Arg
XM_017000851.1:c.3295A>C	XP_016856340.1:p.Ser1099Arg
XM_017000852.1:c.4273A>C	XP_016856341.1:p.Ser1425Arg
NM_201253.3:c.4138A>C MANE Select	NP_957705.1:p.Ser1380Arg
NM_001193640.2:c.3802A>C	NP_001180569.1:p.Ser1268Arg
NM_001257965.2:c.4066A>C	NP_001244894.1:p.Ser1356Arg
NR_047563.2:n.4091A>C
NR_047564.2:n.4541A>C
NM_001257966.2:c.2530A>C	NP_001244895.1:p.Ser844Arg