Canonical Allele Identifier: CA149651

Gene: CRB1

Linked Data

• ClinVar Variation Id: 96660
• ClinVar RCV Id: RCV000082823 ; RCV000294788 ; RCV000345158 ; RCV000398738 ; RCV001517599
• dbSNP Id: rs12042179
• ExAC: 1:197297540 A / T
• gnomAD v2: 1-197297540-A-T
• gnomAD v3: 1-197328410-A-T
• gnomAD v4: 1-197328410-A-T
• MyVariant Identifiers: chr1:g.197297540A>T (hg19) ; chr1:g.197328410A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197328410A>T , CM000663.2:g.197328410A>T	GRCh38
NC_000001.10:g.197297540A>T , CM000663.1:g.197297540A>T	GRCh37
NC_000001.9:g.195564163A>T	NCBI36
NG_008483.1:g.65133A>T
NG_008483.2:g.131949A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.71-12A>T MANE Select	ENSP00000356370.3:n.71-12A>T
ENST00000638467.1:c.71-12A>T	ENSP00000491102.1:n.71-12A>T
ENST00000367399.6:c.71-12A>T	ENSP00000356369.2:n.71-12A>T
ENST00000367400.7:c.71-12A>T	ENSP00000356370.3:n.71-12A>T
ENST00000475659.1:n.208-12A>T
ENST00000484075.5:c.71-12A>T	ENSP00000433932.1:n.71-12A>T
ENST00000535699.5:c.-137-12A>T	ENSP00000438786.1:n.-137-12A>T
ENST00000538660.5:c.71-12A>T	ENSP00000438091.1:n.71-12A>T
NM_001193640.1:c.71-12A>T	NP_001180569.1:n.71-12A>T
NM_001257965.1:c.-137-12A>T	NP_001244894.1:n.-137-12A>T
NM_001257966.1:c.71-12A>T	NP_001244895.1:n.71-12A>T
NM_201253.2:c.71-12A>T	NP_957705.1:n.71-12A>T
NR_047563.1:n.280-12A>T
NR_047564.1:n.280-12A>T
XM_011509365.1:c.71-12A>T	XP_011507667.1:n.71-12A>T
XM_011509366.1:c.71-12A>T	XP_011507668.1:n.71-12A>T
XM_011509367.1:c.71-12A>T	XP_011507669.1:n.71-12A>T
XM_011509368.1:c.71-15871A>T	XP_011507670.1:n.71-15871A>T
XM_011509365.2:c.71-12A>T	XP_011507667.1:n.71-12A>T
XM_017000851.1:c.-633-12A>T	XP_016856340.1:n.-633-12A>T
XM_017000852.1:c.71-12A>T	XP_016856341.1:n.71-12A>T
NM_201253.3:c.71-12A>T MANE Select	NP_957705.1:n.71-12A>T
NM_001193640.2:c.71-12A>T	NP_001180569.1:n.71-12A>T
NM_001257965.2:c.-137-12A>T	NP_001244894.1:n.-137-12A>T
NR_047563.2:n.232-12A>T
NR_047564.2:n.232-12A>T
NM_001257966.2:c.71-12A>T	NP_001244895.1:n.71-12A>T