Canonical Allele Identifier: CA344036139

Gene: CRB1

Linked Data

• gnomAD v4: 1-197477878-A-G
• MyVariant Identifiers: chr1:g.197447008A>G (hg19) ; chr1:g.197477878A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477878A>G , CM000663.2:g.197477878A>G	GRCh38
NC_000001.10:g.197447008A>G , CM000663.1:g.197447008A>G	GRCh37
NC_000001.9:g.195713631A>G	NCBI36
NG_008483.1:g.214601A>G
NG_008483.2:g.281417A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4220A>G MANE Select	ENSP00000356370.3:p.Ter1407Trp
ENST00000367399.6:c.3884A>G	ENSP00000356369.2:p.Ter1295Trp
ENST00000367400.7:c.4220A>G	ENSP00000356370.3:p.Ter1407Trp
ENST00000448952.1:c.454A>G	ENSP00000395407.1:n.454A>G
ENST00000484075.5:c.*331A>G	ENSP00000433932.1:n.*331A>G
ENST00000535699.5:c.4148A>G	ENSP00000438786.1:p.Ter1383Trp
ENST00000538660.5:c.2612A>G	ENSP00000438091.1:p.Ter871Trp
NM_001193640.1:c.3884A>G	NP_001180569.1:p.Ter1295Trp
NM_001257965.1:c.4148A>G	NP_001244894.1:p.Ter1383Trp
NM_001257966.1:c.2612A>G	NP_001244895.1:p.Ter871Trp
NM_201253.2:c.4220A>G	NP_957705.1:p.Ter1407Trp
NR_047563.1:n.4221A>G
NR_047564.1:n.4671A>G
XM_011509366.1:c.*325A>G	XP_011507668.1:n.*325A>G
XM_011509367.1:c.*199A>G	XP_011507669.1:n.*199A>G
XM_011509368.1:c.3638A>G	XP_011507670.1:p.Ter1213Trp
XM_011509369.1:c.2663A>G	XP_011507671.1:p.Ter888Trp
XM_011509369.2:c.2663A>G	XP_011507671.1:p.Ter888Trp
XM_017000851.1:c.3377A>G	XP_016856340.1:p.Ter1126Trp
XM_017000852.1:c.4355A>G	XP_016856341.1:p.Ter1452Trp
NM_201253.3:c.4220A>G MANE Select	NP_957705.1:p.Ter1407Trp
NM_001193640.2:c.3884A>G	NP_001180569.1:p.Ter1295Trp
NM_001257965.2:c.4148A>G	NP_001244894.1:p.Ter1383Trp
NR_047563.2:n.4173A>G
NR_047564.2:n.4623A>G
NM_001257966.2:c.2612A>G	NP_001244895.1:p.Ter871Trp