Canonical Allele Identifier: CA344047312

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404352C>G (hg19) ; chr1:g.197435222C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435222C>G , CM000663.2:g.197435222C>G	GRCh38
NC_000001.10:g.197404352C>G , CM000663.1:g.197404352C>G	GRCh37
NC_000001.9:g.195670975C>G	NCBI36
NG_008483.1:g.171945C>G
NG_008483.2:g.238761C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3359C>G MANE Select	ENSP00000356370.3:p.Pro1120Arg
ENST00000638467.1:c.3359C>G	ENSP00000491102.1:p.Pro1120Arg
ENST00000681519.1:c.2240C>G	ENSP00000505267.1:p.Pro747Arg
ENST00000367397.1:c.1502C>G	ENSP00000356367.1:p.Pro501Arg
ENST00000367399.6:c.3023C>G	ENSP00000356369.2:p.Pro1008Arg
ENST00000367400.7:c.3359C>G	ENSP00000356370.3:p.Pro1120Arg
ENST00000484075.5:c.3359C>G	ENSP00000433932.1:p.Pro1120Arg
ENST00000535699.5:c.3287C>G	ENSP00000438786.1:p.Pro1096Arg
ENST00000538660.5:c.2129-378C>G	ENSP00000438091.1:n.2129-378C>G
NM_001193640.1:c.3023C>G	NP_001180569.1:p.Pro1008Arg
NM_001257965.1:c.3287C>G	NP_001244894.1:p.Pro1096Arg
NM_001257966.1:c.2129-378C>G	NP_001244895.1:n.2129-378C>G
NM_201253.2:c.3359C>G	NP_957705.1:p.Pro1120Arg
NR_047563.1:n.3360C>G
NR_047564.1:n.3568C>G
XM_011509365.1:c.3359C>G	XP_011507667.1:p.Pro1120Arg
XM_011509366.1:c.3359C>G	XP_011507668.1:p.Pro1120Arg
XM_011509367.1:c.3359C>G	XP_011507669.1:p.Pro1120Arg
XM_011509368.1:c.2777C>G	XP_011507670.1:p.Pro926Arg
XM_011509369.1:c.1802C>G	XP_011507671.1:p.Pro601Arg
XM_011509365.2:c.3359C>G	XP_011507667.1:p.Pro1120Arg
XM_011509369.2:c.1802C>G	XP_011507671.1:p.Pro601Arg
XM_017000851.1:c.2516C>G	XP_016856340.1:p.Pro839Arg
XM_017000852.1:c.3494C>G	XP_016856341.1:p.Pro1165Arg
NM_201253.3:c.3359C>G MANE Select	NP_957705.1:p.Pro1120Arg
NM_001193640.2:c.3023C>G	NP_001180569.1:p.Pro1008Arg
NM_001257965.2:c.3287C>G	NP_001244894.1:p.Pro1096Arg
NR_047563.2:n.3312C>G
NR_047564.2:n.3520C>G
NM_001257966.2:c.2129-378C>G	NP_001244895.1:n.2129-378C>G