Canonical Allele Identifier: CA422672516

Gene: CRB1

Linked Data

• dbSNP Id: rs1359395833
• gnomAD v3: 1-197434731-A-T
• gnomAD v4: 1-197434731-A-T
• MyVariant Identifiers: chr1:g.197403861A>T (hg19) ; chr1:g.197434731A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434731A>T , CM000663.2:g.197434731A>T	GRCh38
NC_000001.10:g.197403861A>T , CM000663.1:g.197403861A>T	GRCh37
NC_000001.9:g.195670484A>T	NCBI36
NG_008483.1:g.171454A>T
NG_008483.2:g.238270A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2868A>T MANE Select	ENSP00000356370.3:p.Gly956=
ENST00000638467.1:c.2868A>T	ENSP00000491102.1:p.Gly956=
ENST00000681519.1:c.1749A>T	ENSP00000505267.1:p.Gly583=
ENST00000367397.1:c.1011A>T	ENSP00000356367.1:p.Gly337=
ENST00000367399.6:c.2532A>T	ENSP00000356369.2:p.Gly844=
ENST00000367400.7:c.2868A>T	ENSP00000356370.3:p.Gly956=
ENST00000484075.5:c.2868A>T	ENSP00000433932.1:p.Gly956=
ENST00000535699.5:c.2796A>T	ENSP00000438786.1:p.Gly932=
ENST00000538660.5:c.2129-869A>T	ENSP00000438091.1:n.2129-869A>T
NM_001193640.1:c.2532A>T	NP_001180569.1:p.Gly844=
NM_001257965.1:c.2796A>T	NP_001244894.1:p.Gly932=
NM_001257966.1:c.2129-869A>T	NP_001244895.1:n.2129-869A>T
NM_201253.2:c.2868A>T	NP_957705.1:p.Gly956=
NR_047563.1:n.2869A>T
NR_047564.1:n.3077A>T
XM_011509365.1:c.2868A>T	XP_011507667.1:p.Gly956=
XM_011509366.1:c.2868A>T	XP_011507668.1:p.Gly956=
XM_011509367.1:c.2868A>T	XP_011507669.1:p.Gly956=
XM_011509368.1:c.2286A>T	XP_011507670.1:p.Gly762=
XM_011509369.1:c.1311A>T	XP_011507671.1:p.Gly437=
XM_011509365.2:c.2868A>T	XP_011507667.1:p.Gly956=
XM_011509369.2:c.1311A>T	XP_011507671.1:p.Gly437=
XM_017000851.1:c.2025A>T	XP_016856340.1:p.Gly675=
XM_017000852.1:c.3003A>T	XP_016856341.1:p.Gly1001=
NM_201253.3:c.2868A>T MANE Select	NP_957705.1:p.Gly956=
NM_001193640.2:c.2532A>T	NP_001180569.1:p.Gly844=
NM_001257965.2:c.2796A>T	NP_001244894.1:p.Gly932=
NR_047563.2:n.2821A>T
NR_047564.2:n.3029A>T
NM_001257966.2:c.2129-869A>T	NP_001244895.1:n.2129-869A>T