Canonical Allele Identifier: CA344037683

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2503481
• ClinVar RCV Id: RCV003230253
• dbSNP Id: rs1558132142
• gnomAD v4: 1-197427805-G-T
• MyVariant Identifiers: chr1:g.197396935G>T (hg19) ; chr1:g.197427805G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427805G>T , CM000663.2:g.197427805G>T	GRCh38
NC_000001.10:g.197396935G>T , CM000663.1:g.197396935G>T	GRCh37
NC_000001.9:g.195663558G>T	NCBI36
NG_008483.1:g.164528G>T
NG_008483.2:g.231344G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2480G>T MANE Select	ENSP00000356370.3:p.Gly827Val
ENST00000638467.1:c.2480G>T	ENSP00000491102.1:p.Gly827Val
ENST00000681519.1:c.1361G>T	ENSP00000505267.1:p.Gly454Val
ENST00000367397.1:c.623G>T	ENSP00000356367.1:p.Gly208Val
ENST00000367399.6:c.2144G>T	ENSP00000356369.2:p.Gly715Val
ENST00000367400.7:c.2480G>T	ENSP00000356370.3:p.Gly827Val
ENST00000480086.2:n.381G>T
ENST00000484075.5:c.2480G>T	ENSP00000433932.1:p.Gly827Val
ENST00000535699.5:c.2273G>T	ENSP00000438786.1:p.Gly758Val
ENST00000538660.5:c.2128+5849G>T	ENSP00000438091.1:n.2128+5849G>T
NM_001193640.1:c.2144G>T	NP_001180569.1:p.Gly715Val
NM_001257965.1:c.2273G>T	NP_001244894.1:p.Gly758Val
NM_001257966.1:c.2128+5849G>T	NP_001244895.1:n.2128+5849G>T
NM_201253.2:c.2480G>T	NP_957705.1:p.Gly827Val
NR_047563.1:n.2481G>T
NR_047564.1:n.2689G>T
XM_011509365.1:c.2480G>T	XP_011507667.1:p.Gly827Val
XM_011509366.1:c.2480G>T	XP_011507668.1:p.Gly827Val
XM_011509367.1:c.2480G>T	XP_011507669.1:p.Gly827Val
XM_011509368.1:c.1898G>T	XP_011507670.1:p.Gly633Val
XM_011509369.1:c.923G>T	XP_011507671.1:p.Gly308Val
XM_011509365.2:c.2480G>T	XP_011507667.1:p.Gly827Val
XM_011509369.2:c.923G>T	XP_011507671.1:p.Gly308Val
XM_017000851.1:c.1637G>T	XP_016856340.1:p.Gly546Val
XM_017000852.1:c.2480G>T	XP_016856341.1:p.Gly827Val
NM_201253.3:c.2480G>T MANE Select	NP_957705.1:p.Gly827Val
NM_001193640.2:c.2144G>T	NP_001180569.1:p.Gly715Val
NM_001257965.2:c.2273G>T	NP_001244894.1:p.Gly758Val
NR_047563.2:n.2433G>T
NR_047564.2:n.2641G>T
NM_001257966.2:c.2128+5849G>T	NP_001244895.1:n.2128+5849G>T