Canonical Allele Identifier: CA344082566

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1210393
• ClinVar RCV Id: RCV001580686 ; RCV001580687
• dbSNP Id: rs1237424465
• MyVariant Identifiers: chr1:g.197237613G>T (hg19) ; chr1:g.197268483G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197268483G>T , CM000663.2:g.197268483G>T	GRCh38
NC_000001.10:g.197237613G>T , CM000663.1:g.197237613G>T	GRCh37
NC_000001.9:g.195504236G>T	NCBI36
NG_008483.1:g.5206G>T
NG_008483.2:g.72022G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.70+1G>T MANE Select	ENSP00000356370.3:n.70+1G>T
ENST00000638467.1:c.70+1G>T	ENSP00000491102.1:n.70+1G>T
ENST00000367399.6:c.70+1G>T	ENSP00000356369.2:n.70+1G>T
ENST00000367400.7:c.70+1G>T	ENSP00000356370.3:n.70+1G>T
ENST00000475659.1:n.207+1G>T
ENST00000484075.5:c.70+1G>T	ENSP00000433932.1:n.70+1G>T
ENST00000535699.5:c.-138+1G>T	ENSP00000438786.1:n.-138+1G>T
ENST00000538660.5:c.70+1G>T	ENSP00000438091.1:n.70+1G>T
NM_001193640.1:c.70+1G>T	NP_001180569.1:n.70+1G>T
NM_001257965.1:c.-212-33957G>T	NP_001244894.1:n.-212-33957G>T
NM_001257966.1:c.70+1G>T	NP_001244895.1:n.70+1G>T
NM_201253.2:c.70+1G>T	NP_957705.1:n.70+1G>T
NR_047563.1:n.279+1G>T
NR_047564.1:n.279+1G>T
XM_011509365.1:c.70+1G>T	XP_011507667.1:n.70+1G>T
XM_011509366.1:c.70+1G>T	XP_011507668.1:n.70+1G>T
XM_011509367.1:c.70+1G>T	XP_011507669.1:n.70+1G>T
XM_011509368.1:c.70+1G>T	XP_011507670.1:n.70+1G>T
XM_011509365.2:c.70+1G>T	XP_011507667.1:n.70+1G>T
XM_017000851.1:c.-634+1G>T	XP_016856340.1:n.-634+1G>T
XM_017000852.1:c.70+1G>T	XP_016856341.1:n.70+1G>T
NM_201253.3:c.70+1G>T MANE Select	NP_957705.1:n.70+1G>T
NM_001193640.2:c.70+1G>T	NP_001180569.1:n.70+1G>T
NM_001257965.2:c.-212-33957G>T	NP_001244894.1:n.-212-33957G>T
NR_047563.2:n.231+1G>T
NR_047564.2:n.231+1G>T
NM_001257966.2:c.70+1G>T	NP_001244895.1:n.70+1G>T