Canonical Allele Identifier: CA422809028

Gene: CRB1

Linked Data

• gnomAD v4: 1-197427962-C-T
• MyVariant Identifiers: chr1:g.197397092C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427962C>T , CM000663.2:g.197427962C>T	GRCh38
NC_000001.10:g.197397092C>T , CM000663.1:g.197397092C>T	GRCh37
NC_000001.9:g.195663715C>T	NCBI36
NG_008483.1:g.164685C>T
NG_008483.2:g.231501C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2637C>T MANE Select	ENSP00000356370.3:p.Val879=
ENST00000638467.1:c.2637C>T	ENSP00000491102.1:p.Val879=
ENST00000681519.1:c.1518C>T	ENSP00000505267.1:p.Val506=
ENST00000367397.1:c.780C>T	ENSP00000356367.1:p.Val260=
ENST00000367399.6:c.2301C>T	ENSP00000356369.2:p.Val767=
ENST00000367400.7:c.2637C>T	ENSP00000356370.3:p.Val879=
ENST00000484075.5:c.2637C>T	ENSP00000433932.1:p.Val879=
ENST00000535699.5:c.2430C>T	ENSP00000438786.1:p.Val810=
ENST00000538660.5:c.2128+6006C>T	ENSP00000438091.1:n.2128+6006C>T
NM_001193640.1:c.2301C>T	NP_001180569.1:p.Val767=
NM_001257965.1:c.2430C>T	NP_001244894.1:p.Val810=
NM_001257966.1:c.2128+6006C>T	NP_001244895.1:n.2128+6006C>T
NM_201253.2:c.2637C>T	NP_957705.1:p.Val879=
NR_047563.1:n.2638C>T
NR_047564.1:n.2846C>T
XM_011509365.1:c.2637C>T	XP_011507667.1:p.Val879=
XM_011509366.1:c.2637C>T	XP_011507668.1:p.Val879=
XM_011509367.1:c.2637C>T	XP_011507669.1:p.Val879=
XM_011509368.1:c.2055C>T	XP_011507670.1:p.Val685=
XM_011509369.1:c.1080C>T	XP_011507671.1:p.Val360=
XM_011509365.2:c.2637C>T	XP_011507667.1:p.Val879=
XM_011509369.2:c.1080C>T	XP_011507671.1:p.Val360=
XM_017000851.1:c.1794C>T	XP_016856340.1:p.Val598=
XM_017000852.1:c.2637C>T	XP_016856341.1:p.Val879=
NM_201253.3:c.2637C>T MANE Select	NP_957705.1:p.Val879=
NM_001193640.2:c.2301C>T	NP_001180569.1:p.Val767=
NM_001257965.2:c.2430C>T	NP_001244894.1:p.Val810=
NR_047563.2:n.2590C>T
NR_047564.2:n.2798C>T
NM_001257966.2:c.2128+6006C>T	NP_001244895.1:n.2128+6006C>T