Canonical Allele Identifier: CA227993

Gene: CRB1

Linked Data

• ClinVar Variation Id: 99870
• ClinVar RCV Id: RCV001376374 ; RCV001826777 ; RCV003235040 ; RCV003453012 ; RCV003453013
• dbSNP Id: rs62636264
• gnomAD v2: 1-197390396-T-C
• gnomAD v3: 1-197421266-T-C
• gnomAD v4: 1-197421266-T-C
• MyVariant Identifiers: chr1:g.197390396T>C (hg19) ; chr1:g.197421266T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421266T>C , CM000663.2:g.197421266T>C	GRCh38
NC_000001.10:g.197390396T>C , CM000663.1:g.197390396T>C	GRCh37
NC_000001.9:g.195657019T>C	NCBI36
NG_008483.1:g.157989T>C
NG_008483.2:g.224805T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.1438T>C MANE Select	ENSP00000356370.3:p.Cys480Arg
ENST00000638467.1:c.1438T>C	ENSP00000491102.1:p.Cys480Arg
ENST00000681519.1:c.319T>C	ENSP00000505267.1:p.Cys107Arg
ENST00000367397.1:c.-420T>C	ENSP00000356367.1:n.-420T>C
ENST00000367399.6:c.1102T>C	ENSP00000356369.2:p.Cys368Arg
ENST00000367400.7:c.1438T>C	ENSP00000356370.3:p.Cys480Arg
ENST00000476483.1:n.398T>C
ENST00000484075.5:c.1438T>C	ENSP00000433932.1:p.Cys480Arg
ENST00000535699.5:c.1231T>C	ENSP00000438786.1:p.Cys411Arg
ENST00000538660.5:c.1438T>C	ENSP00000438091.1:p.Cys480Arg
NM_001193640.1:c.1102T>C	NP_001180569.1:p.Cys368Arg
NM_001257965.1:c.1231T>C	NP_001244894.1:p.Cys411Arg
NM_001257966.1:c.1438T>C	NP_001244895.1:p.Cys480Arg
NM_201253.2:c.1438T>C	NP_957705.1:p.Cys480Arg
NR_047563.1:n.1647T>C
NR_047564.1:n.1647T>C
XM_011509365.1:c.1438T>C	XP_011507667.1:p.Cys480Arg
XM_011509366.1:c.1438T>C	XP_011507668.1:p.Cys480Arg
XM_011509367.1:c.1438T>C	XP_011507669.1:p.Cys480Arg
XM_011509368.1:c.856T>C	XP_011507670.1:p.Cys286Arg
XM_011509369.1:c.-120T>C	XP_011507671.1:n.-120T>C
XM_011509365.2:c.1438T>C	XP_011507667.1:p.Cys480Arg
XM_011509369.2:c.-120T>C	XP_011507671.1:n.-120T>C
XM_017000851.1:c.595T>C	XP_016856340.1:p.Cys199Arg
XM_017000852.1:c.1438T>C	XP_016856341.1:p.Cys480Arg
NM_201253.3:c.1438T>C MANE Select	NP_957705.1:p.Cys480Arg
NM_001193640.2:c.1102T>C	NP_001180569.1:p.Cys368Arg
NM_001257965.2:c.1231T>C	NP_001244894.1:p.Cys411Arg
NR_047563.2:n.1599T>C
NR_047564.2:n.1599T>C
NM_001257966.2:c.1438T>C	NP_001244895.1:p.Cys480Arg