Canonical Allele Identifier: CA1312121

Gene: CRB1

Linked Data

• ClinVar Variation Id: 294679
• ClinVar RCV Id: RCV000306210 ; RCV000359746 ; RCV000391747 ; RCV000951208
• dbSNP Id: rs371089348
• ExAC: 1:197396874 C / T
• gnomAD v2: 1-197396874-C-T
• gnomAD v3: 1-197427744-C-T
• gnomAD v4: 1-197427744-C-T
• MyVariant Identifiers: chr1:g.197396874C>T (hg19) ; chr1:g.197427744C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427744C>T , CM000663.2:g.197427744C>T	GRCh38
NC_000001.10:g.197396874C>T , CM000663.1:g.197396874C>T	GRCh37
NC_000001.9:g.195663497C>T	NCBI36
NG_008483.1:g.164467C>T
NG_008483.2:g.231283C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2419C>T MANE Select	ENSP00000356370.3:p.Leu807=
ENST00000638467.1:c.2419C>T	ENSP00000491102.1:p.Leu807=
ENST00000681519.1:c.1300C>T	ENSP00000505267.1:p.Leu434=
ENST00000367397.1:c.562C>T	ENSP00000356367.1:p.Leu188=
ENST00000367399.6:c.2083C>T	ENSP00000356369.2:p.Leu695=
ENST00000367400.7:c.2419C>T	ENSP00000356370.3:p.Leu807=
ENST00000480086.2:n.320C>T
ENST00000484075.5:c.2419C>T	ENSP00000433932.1:p.Leu807=
ENST00000535699.5:c.2212C>T	ENSP00000438786.1:p.Leu738=
ENST00000538660.5:c.2128+5788C>T	ENSP00000438091.1:n.2128+5788C>T
NM_001193640.1:c.2083C>T	NP_001180569.1:p.Leu695=
NM_001257965.1:c.2212C>T	NP_001244894.1:p.Leu738=
NM_001257966.1:c.2128+5788C>T	NP_001244895.1:n.2128+5788C>T
NM_201253.2:c.2419C>T	NP_957705.1:p.Leu807=
NR_047563.1:n.2420C>T
NR_047564.1:n.2628C>T
XM_011509365.1:c.2419C>T	XP_011507667.1:p.Leu807=
XM_011509366.1:c.2419C>T	XP_011507668.1:p.Leu807=
XM_011509367.1:c.2419C>T	XP_011507669.1:p.Leu807=
XM_011509368.1:c.1837C>T	XP_011507670.1:p.Leu613=
XM_011509369.1:c.862C>T	XP_011507671.1:p.Leu288=
XM_011509365.2:c.2419C>T	XP_011507667.1:p.Leu807=
XM_011509369.2:c.862C>T	XP_011507671.1:p.Leu288=
XM_017000851.1:c.1576C>T	XP_016856340.1:p.Leu526=
XM_017000852.1:c.2419C>T	XP_016856341.1:p.Leu807=
NM_201253.3:c.2419C>T MANE Select	NP_957705.1:p.Leu807=
NM_001193640.2:c.2083C>T	NP_001180569.1:p.Leu695=
NM_001257965.2:c.2212C>T	NP_001244894.1:p.Leu738=
NR_047563.2:n.2372C>T
NR_047564.2:n.2580C>T
NM_001257966.2:c.2128+5788C>T	NP_001244895.1:n.2128+5788C>T