Canonical Allele Identifier: CA170860

Gene: CRB1

Linked Data

• ClinVar Variation Id: 156384
• ClinVar RCV Id: RCV000144466 ; RCV003764878
• dbSNP Id: rs587783015
• MyVariant Identifiers: chr1:g.197325970G>A (hg19) ; chr1:g.197356840G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197356840G>A , CM000663.2:g.197356840G>A	GRCh38
NC_000001.10:g.197325970G>A , CM000663.1:g.197325970G>A	GRCh37
NC_000001.9:g.195592593G>A	NCBI36
NG_008483.1:g.93563G>A
NG_008483.2:g.160379G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.998G>A MANE Select	ENSP00000356370.3:p.Gly333Asp
ENST00000638467.1:c.998G>A	ENSP00000491102.1:p.Gly333Asp
ENST00000367399.6:c.662G>A	ENSP00000356369.2:p.Gly221Asp
ENST00000367400.7:c.998G>A	ENSP00000356370.3:p.Gly333Asp
ENST00000475659.1:n.1135G>A
ENST00000484075.5:c.998G>A	ENSP00000433932.1:p.Gly333Asp
ENST00000535699.5:c.791G>A	ENSP00000438786.1:p.Gly264Asp
ENST00000538660.5:c.998G>A	ENSP00000438091.1:p.Gly333Asp
NM_001193640.1:c.662G>A	NP_001180569.1:p.Gly221Asp
NM_001257965.1:c.791G>A	NP_001244894.1:p.Gly264Asp
NM_001257966.1:c.998G>A	NP_001244895.1:p.Gly333Asp
NM_201253.2:c.998G>A	NP_957705.1:p.Gly333Asp
NR_047563.1:n.1207G>A
NR_047564.1:n.1207G>A
XM_011509365.1:c.998G>A	XP_011507667.1:p.Gly333Asp
XM_011509366.1:c.998G>A	XP_011507668.1:p.Gly333Asp
XM_011509367.1:c.998G>A	XP_011507669.1:p.Gly333Asp
XM_011509368.1:c.416G>A	XP_011507670.1:p.Gly139Asp
XM_011509365.2:c.998G>A	XP_011507667.1:p.Gly333Asp
XM_017000851.1:c.155G>A	XP_016856340.1:p.Gly52Asp
XM_017000852.1:c.998G>A	XP_016856341.1:p.Gly333Asp
NM_201253.3:c.998G>A MANE Select	NP_957705.1:p.Gly333Asp
NM_001193640.2:c.662G>A	NP_001180569.1:p.Gly221Asp
NM_001257965.2:c.791G>A	NP_001244894.1:p.Gly264Asp
NR_047563.2:n.1159G>A
NR_047564.2:n.1159G>A
NM_001257966.2:c.998G>A	NP_001244895.1:p.Gly333Asp