Canonical Allele Identifier: CA1312538

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1656092
• ClinVar RCV Id: RCV002161543 ; RCV003889090
• dbSNP Id: rs780087216
• ExAC: 1:197446817 C / T
• gnomAD v2: 1-197446817-C-T
• gnomAD v4: 1-197477687-C-T
• MyVariant Identifiers: chr1:g.197446817C>T (hg19) ; chr1:g.197477687C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477687C>T , CM000663.2:g.197477687C>T	GRCh38
NC_000001.10:g.197446817C>T , CM000663.1:g.197446817C>T	GRCh37
NC_000001.9:g.195713440C>T	NCBI36
NG_008483.1:g.214410C>T
NG_008483.2:g.281226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4029C>T MANE Select	ENSP00000356370.3:p.Asp1343=
ENST00000367399.6:c.3693C>T	ENSP00000356369.2:p.Asp1231=
ENST00000367400.7:c.4029C>T	ENSP00000356370.3:p.Asp1343=
ENST00000448952.1:c.263C>T	ENSP00000395407.1:n.263C>T
ENST00000484075.5:c.*140C>T	ENSP00000433932.1:n.*140C>T
ENST00000535699.5:c.3957C>T	ENSP00000438786.1:p.Asp1319=
ENST00000538660.5:c.2421C>T	ENSP00000438091.1:p.Asp807=
NM_001193640.1:c.3693C>T	NP_001180569.1:p.Asp1231=
NM_001257965.1:c.3957C>T	NP_001244894.1:p.Asp1319=
NM_001257966.1:c.2421C>T	NP_001244895.1:p.Asp807=
NM_201253.2:c.4029C>T	NP_957705.1:p.Asp1343=
NR_047563.1:n.4030C>T
NR_047564.1:n.4480C>T
XM_011509366.1:c.*134C>T	XP_011507668.1:n.*134C>T
XM_011509367.1:c.*8C>T	XP_011507669.1:n.*8C>T
XM_011509368.1:c.3447C>T	XP_011507670.1:p.Asp1149=
XM_011509369.1:c.2472C>T	XP_011507671.1:p.Asp824=
XM_011509369.2:c.2472C>T	XP_011507671.1:p.Asp824=
XM_017000851.1:c.3186C>T	XP_016856340.1:p.Asp1062=
XM_017000852.1:c.4164C>T	XP_016856341.1:p.Asp1388=
NM_201253.3:c.4029C>T MANE Select	NP_957705.1:p.Asp1343=
NM_001193640.2:c.3693C>T	NP_001180569.1:p.Asp1231=
NM_001257965.2:c.3957C>T	NP_001244894.1:p.Asp1319=
NR_047563.2:n.3982C>T
NR_047564.2:n.4432C>T
NM_001257966.2:c.2421C>T	NP_001244895.1:p.Asp807=