Canonical Allele Identifier: CA2573131424

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1560716
• ClinVar RCV Id: RCV002197984
• dbSNP Id: rs2125303442

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197328412T>A , CM000663.2:g.197328412T>A	GRCh38
NC_000001.10:g.197297542T>A , CM000663.1:g.197297542T>A	GRCh37
NC_000001.9:g.195564165T>A	NCBI36
NG_008483.1:g.65135T>A
NG_008483.2:g.131951T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.71-10T>A MANE Select	ENSP00000356370.3:n.71-10T>A
ENST00000638467.1:c.71-10T>A	ENSP00000491102.1:n.71-10T>A
ENST00000367399.6:c.71-10T>A	ENSP00000356369.2:n.71-10T>A
ENST00000367400.7:c.71-10T>A	ENSP00000356370.3:n.71-10T>A
ENST00000475659.1:n.208-10T>A
ENST00000484075.5:c.71-10T>A	ENSP00000433932.1:n.71-10T>A
ENST00000535699.5:c.-137-10T>A	ENSP00000438786.1:n.-137-10T>A
ENST00000538660.5:c.71-10T>A	ENSP00000438091.1:n.71-10T>A
NM_001193640.1:c.71-10T>A	NP_001180569.1:n.71-10T>A
NM_001257965.1:c.-137-10T>A	NP_001244894.1:n.-137-10T>A
NM_001257966.1:c.71-10T>A	NP_001244895.1:n.71-10T>A
NM_201253.2:c.71-10T>A	NP_957705.1:n.71-10T>A
NR_047563.1:n.280-10T>A
NR_047564.1:n.280-10T>A
XM_011509365.1:c.71-10T>A	XP_011507667.1:n.71-10T>A
XM_011509366.1:c.71-10T>A	XP_011507668.1:n.71-10T>A
XM_011509367.1:c.71-10T>A	XP_011507669.1:n.71-10T>A
XM_011509368.1:c.71-15869T>A	XP_011507670.1:n.71-15869T>A
XM_011509365.2:c.71-10T>A	XP_011507667.1:n.71-10T>A
XM_017000851.1:c.-633-10T>A	XP_016856340.1:n.-633-10T>A
XM_017000852.1:c.71-10T>A	XP_016856341.1:n.71-10T>A
NM_201253.3:c.71-10T>A MANE Select	NP_957705.1:n.71-10T>A
NM_001193640.2:c.71-10T>A	NP_001180569.1:n.71-10T>A
NM_001257965.2:c.-137-10T>A	NP_001244894.1:n.-137-10T>A
NR_047563.2:n.232-10T>A
NR_047564.2:n.232-10T>A
NM_001257966.2:c.71-10T>A	NP_001244895.1:n.71-10T>A