Canonical Allele Identifier: CA422808948

Gene: CRB1

Linked Data

• gnomAD v4: 1-197427909-C-T
• COSMIC: COSM5590362 ; COSM5590363
• MyVariant Identifiers: chr1:g.197397039C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427909C>T , CM000663.2:g.197427909C>T	GRCh38
NC_000001.10:g.197397039C>T , CM000663.1:g.197397039C>T	GRCh37
NC_000001.9:g.195663662C>T	NCBI36
NG_008483.1:g.164632C>T
NG_008483.2:g.231448C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2584C>T MANE Select	ENSP00000356370.3:p.Leu862=
ENST00000638467.1:c.2584C>T	ENSP00000491102.1:p.Leu862=
ENST00000681519.1:c.1465C>T	ENSP00000505267.1:p.Leu489=
ENST00000367397.1:c.727C>T	ENSP00000356367.1:p.Leu243=
ENST00000367399.6:c.2248C>T	ENSP00000356369.2:p.Leu750=
ENST00000367400.7:c.2584C>T	ENSP00000356370.3:p.Leu862=
ENST00000484075.5:c.2584C>T	ENSP00000433932.1:p.Leu862=
ENST00000535699.5:c.2377C>T	ENSP00000438786.1:p.Leu793=
ENST00000538660.5:c.2128+5953C>T	ENSP00000438091.1:n.2128+5953C>T
NM_001193640.1:c.2248C>T	NP_001180569.1:p.Leu750=
NM_001257965.1:c.2377C>T	NP_001244894.1:p.Leu793=
NM_001257966.1:c.2128+5953C>T	NP_001244895.1:n.2128+5953C>T
NM_201253.2:c.2584C>T	NP_957705.1:p.Leu862=
NR_047563.1:n.2585C>T
NR_047564.1:n.2793C>T
XM_011509365.1:c.2584C>T	XP_011507667.1:p.Leu862=
XM_011509366.1:c.2584C>T	XP_011507668.1:p.Leu862=
XM_011509367.1:c.2584C>T	XP_011507669.1:p.Leu862=
XM_011509368.1:c.2002C>T	XP_011507670.1:p.Leu668=
XM_011509369.1:c.1027C>T	XP_011507671.1:p.Leu343=
XM_011509365.2:c.2584C>T	XP_011507667.1:p.Leu862=
XM_011509369.2:c.1027C>T	XP_011507671.1:p.Leu343=
XM_017000851.1:c.1741C>T	XP_016856340.1:p.Leu581=
XM_017000852.1:c.2584C>T	XP_016856341.1:p.Leu862=
NM_201253.3:c.2584C>T MANE Select	NP_957705.1:p.Leu862=
NM_001193640.2:c.2248C>T	NP_001180569.1:p.Leu750=
NM_001257965.2:c.2377C>T	NP_001244894.1:p.Leu793=
NR_047563.2:n.2537C>T
NR_047564.2:n.2745C>T
NM_001257966.2:c.2128+5953C>T	NP_001244895.1:n.2128+5953C>T