Canonical Allele Identifier: CA35893745

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1438550
• ClinVar RCV Id: RCV001949008 ; RCV002484690 ; RCV003453811 ; RCV003453812 ; RCV003453813
• dbSNP Id: rs1034422363
• gnomAD v4: 1-197421583-C-A
• MyVariant Identifiers: chr1:g.197390713C>A (hg19) ; chr1:g.197421583C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421583C>A , CM000663.2:g.197421583C>A	GRCh38
NC_000001.10:g.197390713C>A , CM000663.1:g.197390713C>A	GRCh37
NC_000001.9:g.195657336C>A	NCBI36
NG_008483.1:g.158306C>A
NG_008483.2:g.225122C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1755C>A MANE Select	ENSP00000356370.3:p.Asp585Glu
ENST00000638467.1:c.1755C>A	ENSP00000491102.1:p.Asp585Glu
ENST00000681519.1:c.636C>A	ENSP00000505267.1:p.Asp212Glu
ENST00000367397.1:c.-103C>A	ENSP00000356367.1:n.-103C>A
ENST00000367399.6:c.1419C>A	ENSP00000356369.2:p.Asp473Glu
ENST00000367400.7:c.1755C>A	ENSP00000356370.3:p.Asp585Glu
ENST00000484075.5:c.1755C>A	ENSP00000433932.1:p.Asp585Glu
ENST00000535699.5:c.1548C>A	ENSP00000438786.1:p.Asp516Glu
ENST00000538660.5:c.1755C>A	ENSP00000438091.1:p.Asp585Glu
NM_001193640.1:c.1419C>A	NP_001180569.1:p.Asp473Glu
NM_001257965.1:c.1548C>A	NP_001244894.1:p.Asp516Glu
NM_001257966.1:c.1755C>A	NP_001244895.1:p.Asp585Glu
NM_201253.2:c.1755C>A	NP_957705.1:p.Asp585Glu
NR_047563.1:n.1922+42C>A
NR_047564.1:n.1964C>A
XM_011509365.1:c.1755C>A	XP_011507667.1:p.Asp585Glu
XM_011509366.1:c.1755C>A	XP_011507668.1:p.Asp585Glu
XM_011509367.1:c.1755C>A	XP_011507669.1:p.Asp585Glu
XM_011509368.1:c.1173C>A	XP_011507670.1:p.Asp391Glu
XM_011509369.1:c.198C>A	XP_011507671.1:p.Asp66Glu
XM_011509365.2:c.1755C>A	XP_011507667.1:p.Asp585Glu
XM_011509369.2:c.198C>A	XP_011507671.1:p.Asp66Glu
XM_017000851.1:c.912C>A	XP_016856340.1:p.Asp304Glu
XM_017000852.1:c.1755C>A	XP_016856341.1:p.Asp585Glu
NM_201253.3:c.1755C>A MANE Select	NP_957705.1:p.Asp585Glu
NM_001193640.2:c.1419C>A	NP_001180569.1:p.Asp473Glu
NM_001257965.2:c.1548C>A	NP_001244894.1:p.Asp516Glu
NR_047563.2:n.1874+42C>A
NR_047564.2:n.1916C>A
NM_001257966.2:c.1755C>A	NP_001244895.1:p.Asp585Glu