Canonical Allele Identifier: CA1311926

Gene: CRB1

Linked Data

• ClinVar Variation Id: 287584
• ClinVar RCV Id: RCV000398958 ; RCV001083735 ; RCV001271898
• dbSNP Id: rs35193230
• ExAC: 1:197390428 C / T
• gnomAD v2: 1-197390428-C-T
• gnomAD v3: 1-197421298-C-T
• gnomAD v4: 1-197421298-C-T
• COSMIC: COSM209334
• MyVariant Identifiers: chr1:g.197390428C>T (hg19) ; chr1:g.197421298C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421298C>T , CM000663.2:g.197421298C>T	GRCh38
NC_000001.10:g.197390428C>T , CM000663.1:g.197390428C>T	GRCh37
NC_000001.9:g.195657051C>T	NCBI36
NG_008483.1:g.158021C>T
NG_008483.2:g.224837C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1470C>T MANE Select	ENSP00000356370.3:p.Gly490=
ENST00000638467.1:c.1470C>T	ENSP00000491102.1:p.Gly490=
ENST00000681519.1:c.351C>T	ENSP00000505267.1:p.Gly117=
ENST00000367397.1:c.-388C>T	ENSP00000356367.1:n.-388C>T
ENST00000367399.6:c.1134C>T	ENSP00000356369.2:p.Gly378=
ENST00000367400.7:c.1470C>T	ENSP00000356370.3:p.Gly490=
ENST00000476483.1:n.430C>T
ENST00000484075.5:c.1470C>T	ENSP00000433932.1:p.Gly490=
ENST00000535699.5:c.1263C>T	ENSP00000438786.1:p.Gly421=
ENST00000538660.5:c.1470C>T	ENSP00000438091.1:p.Gly490=
NM_001193640.1:c.1134C>T	NP_001180569.1:p.Gly378=
NM_001257965.1:c.1263C>T	NP_001244894.1:p.Gly421=
NM_001257966.1:c.1470C>T	NP_001244895.1:p.Gly490=
NM_201253.2:c.1470C>T	NP_957705.1:p.Gly490=
NR_047563.1:n.1679C>T
NR_047564.1:n.1679C>T
XM_011509365.1:c.1470C>T	XP_011507667.1:p.Gly490=
XM_011509366.1:c.1470C>T	XP_011507668.1:p.Gly490=
XM_011509367.1:c.1470C>T	XP_011507669.1:p.Gly490=
XM_011509368.1:c.888C>T	XP_011507670.1:p.Gly296=
XM_011509369.1:c.-88C>T	XP_011507671.1:n.-88C>T
XM_011509365.2:c.1470C>T	XP_011507667.1:p.Gly490=
XM_011509369.2:c.-88C>T	XP_011507671.1:n.-88C>T
XM_017000851.1:c.627C>T	XP_016856340.1:p.Gly209=
XM_017000852.1:c.1470C>T	XP_016856341.1:p.Gly490=
NM_201253.3:c.1470C>T MANE Select	NP_957705.1:p.Gly490=
NM_001193640.2:c.1134C>T	NP_001180569.1:p.Gly378=
NM_001257965.2:c.1263C>T	NP_001244894.1:p.Gly421=
NR_047563.2:n.1631C>T
NR_047564.2:n.1631C>T
NM_001257966.2:c.1470C>T	NP_001244895.1:p.Gly490=