Canonical Allele Identifier: CA422672534

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2014607
• ClinVar RCV Id: RCV002830126
• MyVariant Identifiers: chr1:g.197403900T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434770T>C , CM000663.2:g.197434770T>C	GRCh38
NC_000001.10:g.197403900T>C , CM000663.1:g.197403900T>C	GRCh37
NC_000001.9:g.195670523T>C	NCBI36
NG_008483.1:g.171493T>C
NG_008483.2:g.238309T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2907T>C MANE Select	ENSP00000356370.3:p.Ile969=
ENST00000638467.1:c.2907T>C	ENSP00000491102.1:p.Ile969=
ENST00000681519.1:c.1788T>C	ENSP00000505267.1:p.Ile596=
ENST00000367397.1:c.1050T>C	ENSP00000356367.1:p.Ile350=
ENST00000367399.6:c.2571T>C	ENSP00000356369.2:p.Ile857=
ENST00000367400.7:c.2907T>C	ENSP00000356370.3:p.Ile969=
ENST00000484075.5:c.2907T>C	ENSP00000433932.1:p.Ile969=
ENST00000535699.5:c.2835T>C	ENSP00000438786.1:p.Ile945=
ENST00000538660.5:c.2129-830T>C	ENSP00000438091.1:n.2129-830T>C
NM_001193640.1:c.2571T>C	NP_001180569.1:p.Ile857=
NM_001257965.1:c.2835T>C	NP_001244894.1:p.Ile945=
NM_001257966.1:c.2129-830T>C	NP_001244895.1:n.2129-830T>C
NM_201253.2:c.2907T>C	NP_957705.1:p.Ile969=
NR_047563.1:n.2908T>C
NR_047564.1:n.3116T>C
XM_011509365.1:c.2907T>C	XP_011507667.1:p.Ile969=
XM_011509366.1:c.2907T>C	XP_011507668.1:p.Ile969=
XM_011509367.1:c.2907T>C	XP_011507669.1:p.Ile969=
XM_011509368.1:c.2325T>C	XP_011507670.1:p.Ile775=
XM_011509369.1:c.1350T>C	XP_011507671.1:p.Ile450=
XM_011509365.2:c.2907T>C	XP_011507667.1:p.Ile969=
XM_011509369.2:c.1350T>C	XP_011507671.1:p.Ile450=
XM_017000851.1:c.2064T>C	XP_016856340.1:p.Ile688=
XM_017000852.1:c.3042T>C	XP_016856341.1:p.Ile1014=
NM_201253.3:c.2907T>C MANE Select	NP_957705.1:p.Ile969=
NM_001193640.2:c.2571T>C	NP_001180569.1:p.Ile857=
NM_001257965.2:c.2835T>C	NP_001244894.1:p.Ile945=
NR_047563.2:n.2860T>C
NR_047564.2:n.3068T>C
NM_001257966.2:c.2129-830T>C	NP_001244895.1:n.2129-830T>C