Canonical Allele Identifier: CA422677570

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446931C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477801C>A , CM000663.2:g.197477801C>A	GRCh38
NC_000001.10:g.197446931C>A , CM000663.1:g.197446931C>A	GRCh37
NC_000001.9:g.195713554C>A	NCBI36
NG_008483.1:g.214524C>A
NG_008483.2:g.281340C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4143C>A MANE Select	ENSP00000356370.3:p.Pro1381=
ENST00000367399.6:c.3807C>A	ENSP00000356369.2:p.Pro1269=
ENST00000367400.7:c.4143C>A	ENSP00000356370.3:p.Pro1381=
ENST00000448952.1:c.377C>A	ENSP00000395407.1:n.377C>A
ENST00000484075.5:c.*254C>A	ENSP00000433932.1:n.*254C>A
ENST00000535699.5:c.4071C>A	ENSP00000438786.1:p.Pro1357=
ENST00000538660.5:c.2535C>A	ENSP00000438091.1:p.Pro845=
NM_001193640.1:c.3807C>A	NP_001180569.1:p.Pro1269=
NM_001257965.1:c.4071C>A	NP_001244894.1:p.Pro1357=
NM_001257966.1:c.2535C>A	NP_001244895.1:p.Pro845=
NM_201253.2:c.4143C>A	NP_957705.1:p.Pro1381=
NR_047563.1:n.4144C>A
NR_047564.1:n.4594C>A
XM_011509366.1:c.*248C>A	XP_011507668.1:n.*248C>A
XM_011509367.1:c.*122C>A	XP_011507669.1:n.*122C>A
XM_011509368.1:c.3561C>A	XP_011507670.1:p.Pro1187=
XM_011509369.1:c.2586C>A	XP_011507671.1:p.Pro862=
XM_011509369.2:c.2586C>A	XP_011507671.1:p.Pro862=
XM_017000851.1:c.3300C>A	XP_016856340.1:p.Pro1100=
XM_017000852.1:c.4278C>A	XP_016856341.1:p.Pro1426=
NM_201253.3:c.4143C>A MANE Select	NP_957705.1:p.Pro1381=
NM_001193640.2:c.3807C>A	NP_001180569.1:p.Pro1269=
NM_001257965.2:c.4071C>A	NP_001244894.1:p.Pro1357=
NR_047563.2:n.4096C>A
NR_047564.2:n.4546C>A
NM_001257966.2:c.2535C>A	NP_001244895.1:p.Pro845=