Canonical Allele Identifier: CA16621582

Gene: CRB1

Linked Data

• ClinVar Variation Id: 424923
• ClinVar RCV Id: RCV001072005 ; RCV001591128 ; RCV000488223
• dbSNP Id: rs1064797126
• MyVariant Identifiers: chr1:g.197297962G>A (hg19) ; chr1:g.197328832G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197328832G>A , CM000663.2:g.197328832G>A	GRCh38
NC_000001.10:g.197297962G>A , CM000663.1:g.197297962G>A	GRCh37
NC_000001.9:g.195564585G>A	NCBI36
NG_008483.1:g.65555G>A
NG_008483.2:g.132371G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.481G>A MANE Select	ENSP00000356370.3:p.Ala161Thr
ENST00000638467.1:c.481G>A	ENSP00000491102.1:p.Ala161Thr
ENST00000367399.6:c.481G>A	ENSP00000356369.2:p.Ala161Thr
ENST00000367400.7:c.481G>A	ENSP00000356370.3:p.Ala161Thr
ENST00000475659.1:n.618G>A
ENST00000484075.5:c.481G>A	ENSP00000433932.1:p.Ala161Thr
ENST00000535699.5:c.274G>A	ENSP00000438786.1:p.Ala92Thr
ENST00000538660.5:c.481G>A	ENSP00000438091.1:p.Ala161Thr
NM_001193640.1:c.481G>A	NP_001180569.1:p.Ala161Thr
NM_001257965.1:c.274G>A	NP_001244894.1:p.Ala92Thr
NM_001257966.1:c.481G>A	NP_001244895.1:p.Ala161Thr
NM_201253.2:c.481G>A	NP_957705.1:p.Ala161Thr
NR_047563.1:n.690G>A
NR_047564.1:n.690G>A
XM_011509365.1:c.481G>A	XP_011507667.1:p.Ala161Thr
XM_011509366.1:c.481G>A	XP_011507668.1:p.Ala161Thr
XM_011509367.1:c.481G>A	XP_011507669.1:p.Ala161Thr
XM_011509368.1:c.71-15449G>A	XP_011507670.1:n.71-15449G>A
XM_011509365.2:c.481G>A	XP_011507667.1:p.Ala161Thr
XM_017000851.1:c.-223G>A	XP_016856340.1:n.-223G>A
XM_017000852.1:c.481G>A	XP_016856341.1:p.Ala161Thr
NM_201253.3:c.481G>A MANE Select	NP_957705.1:p.Ala161Thr
NM_001193640.2:c.481G>A	NP_001180569.1:p.Ala161Thr
NM_001257965.2:c.274G>A	NP_001244894.1:p.Ala92Thr
NR_047563.2:n.642G>A
NR_047564.2:n.642G>A
NM_001257966.2:c.481G>A	NP_001244895.1:p.Ala161Thr