Canonical Allele Identifier: CA422808806

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1124934
• ClinVar RCV Id: RCV001456525
• dbSNP Id: rs1174487197
• gnomAD v4: 1-197427803-G-A
• COSMIC: COSM3481092
• MyVariant Identifiers: chr1:g.197396933G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427803G>A , CM000663.2:g.197427803G>A	GRCh38
NC_000001.10:g.197396933G>A , CM000663.1:g.197396933G>A	GRCh37
NC_000001.9:g.195663556G>A	NCBI36
NG_008483.1:g.164526G>A
NG_008483.2:g.231342G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2478G>A MANE Select	ENSP00000356370.3:p.Lys826=
ENST00000638467.1:c.2478G>A	ENSP00000491102.1:p.Lys826=
ENST00000681519.1:c.1359G>A	ENSP00000505267.1:p.Lys453=
ENST00000367397.1:c.621G>A	ENSP00000356367.1:p.Lys207=
ENST00000367399.6:c.2142G>A	ENSP00000356369.2:p.Lys714=
ENST00000367400.7:c.2478G>A	ENSP00000356370.3:p.Lys826=
ENST00000480086.2:n.379G>A
ENST00000484075.5:c.2478G>A	ENSP00000433932.1:p.Lys826=
ENST00000535699.5:c.2271G>A	ENSP00000438786.1:p.Lys757=
ENST00000538660.5:c.2128+5847G>A	ENSP00000438091.1:n.2128+5847G>A
NM_001193640.1:c.2142G>A	NP_001180569.1:p.Lys714=
NM_001257965.1:c.2271G>A	NP_001244894.1:p.Lys757=
NM_001257966.1:c.2128+5847G>A	NP_001244895.1:n.2128+5847G>A
NM_201253.2:c.2478G>A	NP_957705.1:p.Lys826=
NR_047563.1:n.2479G>A
NR_047564.1:n.2687G>A
XM_011509365.1:c.2478G>A	XP_011507667.1:p.Lys826=
XM_011509366.1:c.2478G>A	XP_011507668.1:p.Lys826=
XM_011509367.1:c.2478G>A	XP_011507669.1:p.Lys826=
XM_011509368.1:c.1896G>A	XP_011507670.1:p.Lys632=
XM_011509369.1:c.921G>A	XP_011507671.1:p.Lys307=
XM_011509365.2:c.2478G>A	XP_011507667.1:p.Lys826=
XM_011509369.2:c.921G>A	XP_011507671.1:p.Lys307=
XM_017000851.1:c.1635G>A	XP_016856340.1:p.Lys545=
XM_017000852.1:c.2478G>A	XP_016856341.1:p.Lys826=
NM_201253.3:c.2478G>A MANE Select	NP_957705.1:p.Lys826=
NM_001193640.2:c.2142G>A	NP_001180569.1:p.Lys714=
NM_001257965.2:c.2271G>A	NP_001244894.1:p.Lys757=
NR_047563.2:n.2431G>A
NR_047564.2:n.2639G>A
NM_001257966.2:c.2128+5847G>A	NP_001244895.1:n.2128+5847G>A