Canonical Allele Identifier: CA344044050

Gene: CRB1

Linked Data

• dbSNP Id: rs1279989141
• gnomAD v3: 1-197434828-A-G
• gnomAD v4: 1-197434828-A-G
• MyVariant Identifiers: chr1:g.197403958A>G (hg19) ; chr1:g.197434828A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434828A>G , CM000663.2:g.197434828A>G	GRCh38
NC_000001.10:g.197403958A>G , CM000663.1:g.197403958A>G	GRCh37
NC_000001.9:g.195670581A>G	NCBI36
NG_008483.1:g.171551A>G
NG_008483.2:g.238367A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2965A>G MANE Select	ENSP00000356370.3:p.Ile989Val
ENST00000638467.1:c.2965A>G	ENSP00000491102.1:p.Ile989Val
ENST00000681519.1:c.1846A>G	ENSP00000505267.1:p.Ile616Val
ENST00000367397.1:c.1108A>G	ENSP00000356367.1:p.Ile370Val
ENST00000367399.6:c.2629A>G	ENSP00000356369.2:p.Ile877Val
ENST00000367400.7:c.2965A>G	ENSP00000356370.3:p.Ile989Val
ENST00000484075.5:c.2965A>G	ENSP00000433932.1:p.Ile989Val
ENST00000535699.5:c.2893A>G	ENSP00000438786.1:p.Ile965Val
ENST00000538660.5:c.2129-772A>G	ENSP00000438091.1:n.2129-772A>G
NM_001193640.1:c.2629A>G	NP_001180569.1:p.Ile877Val
NM_001257965.1:c.2893A>G	NP_001244894.1:p.Ile965Val
NM_001257966.1:c.2129-772A>G	NP_001244895.1:n.2129-772A>G
NM_201253.2:c.2965A>G	NP_957705.1:p.Ile989Val
NR_047563.1:n.2966A>G
NR_047564.1:n.3174A>G
XM_011509365.1:c.2965A>G	XP_011507667.1:p.Ile989Val
XM_011509366.1:c.2965A>G	XP_011507668.1:p.Ile989Val
XM_011509367.1:c.2965A>G	XP_011507669.1:p.Ile989Val
XM_011509368.1:c.2383A>G	XP_011507670.1:p.Ile795Val
XM_011509369.1:c.1408A>G	XP_011507671.1:p.Ile470Val
XM_011509365.2:c.2965A>G	XP_011507667.1:p.Ile989Val
XM_011509369.2:c.1408A>G	XP_011507671.1:p.Ile470Val
XM_017000851.1:c.2122A>G	XP_016856340.1:p.Ile708Val
XM_017000852.1:c.3100A>G	XP_016856341.1:p.Ile1034Val
NM_201253.3:c.2965A>G MANE Select	NP_957705.1:p.Ile989Val
NM_001193640.2:c.2629A>G	NP_001180569.1:p.Ile877Val
NM_001257965.2:c.2893A>G	NP_001244894.1:p.Ile965Val
NR_047563.2:n.2918A>G
NR_047564.2:n.3126A>G
NM_001257966.2:c.2129-772A>G	NP_001244895.1:n.2129-772A>G