Canonical Allele Identifier: CA344036029

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446984C>G (hg19) ; chr1:g.197477854C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477854C>G , CM000663.2:g.197477854C>G	GRCh38
NC_000001.10:g.197446984C>G , CM000663.1:g.197446984C>G	GRCh37
NC_000001.9:g.195713607C>G	NCBI36
NG_008483.1:g.214577C>G
NG_008483.2:g.281393C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4196C>G MANE Select	ENSP00000356370.3:p.Pro1399Arg
ENST00000367399.6:c.3860C>G	ENSP00000356369.2:p.Pro1287Arg
ENST00000367400.7:c.4196C>G	ENSP00000356370.3:p.Pro1399Arg
ENST00000448952.1:c.430C>G	ENSP00000395407.1:n.430C>G
ENST00000484075.5:c.*307C>G	ENSP00000433932.1:n.*307C>G
ENST00000535699.5:c.4124C>G	ENSP00000438786.1:p.Pro1375Arg
ENST00000538660.5:c.2588C>G	ENSP00000438091.1:p.Pro863Arg
NM_001193640.1:c.3860C>G	NP_001180569.1:p.Pro1287Arg
NM_001257965.1:c.4124C>G	NP_001244894.1:p.Pro1375Arg
NM_001257966.1:c.2588C>G	NP_001244895.1:p.Pro863Arg
NM_201253.2:c.4196C>G	NP_957705.1:p.Pro1399Arg
NR_047563.1:n.4197C>G
NR_047564.1:n.4647C>G
XM_011509366.1:c.*301C>G	XP_011507668.1:n.*301C>G
XM_011509367.1:c.*175C>G	XP_011507669.1:n.*175C>G
XM_011509368.1:c.3614C>G	XP_011507670.1:p.Pro1205Arg
XM_011509369.1:c.2639C>G	XP_011507671.1:p.Pro880Arg
XM_011509369.2:c.2639C>G	XP_011507671.1:p.Pro880Arg
XM_017000851.1:c.3353C>G	XP_016856340.1:p.Pro1118Arg
XM_017000852.1:c.4331C>G	XP_016856341.1:p.Pro1444Arg
NM_201253.3:c.4196C>G MANE Select	NP_957705.1:p.Pro1399Arg
NM_001193640.2:c.3860C>G	NP_001180569.1:p.Pro1287Arg
NM_001257965.2:c.4124C>G	NP_001244894.1:p.Pro1375Arg
NR_047563.2:n.4149C>G
NR_047564.2:n.4599C>G
NM_001257966.2:c.2588C>G	NP_001244895.1:p.Pro863Arg