Canonical Allele Identifier: CA344031482

Gene: CRB1

Linked Data

• ClinVar Variation Id: 973362
• ClinVar RCV Id: RCV001249877
• dbSNP Id: rs1664306632
• MyVariant Identifiers: chr1:g.197390520C>T (hg19) ; chr1:g.197421390C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421390C>T , CM000663.2:g.197421390C>T	GRCh38
NC_000001.10:g.197390520C>T , CM000663.1:g.197390520C>T	GRCh37
NC_000001.9:g.195657143C>T	NCBI36
NG_008483.1:g.158113C>T
NG_008483.2:g.224929C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1562C>T MANE Select	ENSP00000356370.3:p.Ala521Val
ENST00000638467.1:c.1562C>T	ENSP00000491102.1:p.Ala521Val
ENST00000681519.1:c.443C>T	ENSP00000505267.1:p.Ala148Val
ENST00000367397.1:c.-296C>T	ENSP00000356367.1:n.-296C>T
ENST00000367399.6:c.1226C>T	ENSP00000356369.2:p.Ala409Val
ENST00000367400.7:c.1562C>T	ENSP00000356370.3:p.Ala521Val
ENST00000476483.1:n.522C>T
ENST00000484075.5:c.1562C>T	ENSP00000433932.1:p.Ala521Val
ENST00000535699.5:c.1355C>T	ENSP00000438786.1:p.Ala452Val
ENST00000538660.5:c.1562C>T	ENSP00000438091.1:p.Ala521Val
NM_001193640.1:c.1226C>T	NP_001180569.1:p.Ala409Val
NM_001257965.1:c.1355C>T	NP_001244894.1:p.Ala452Val
NM_001257966.1:c.1562C>T	NP_001244895.1:p.Ala521Val
NM_201253.2:c.1562C>T	NP_957705.1:p.Ala521Val
NR_047563.1:n.1771C>T
NR_047564.1:n.1771C>T
XM_011509365.1:c.1562C>T	XP_011507667.1:p.Ala521Val
XM_011509366.1:c.1562C>T	XP_011507668.1:p.Ala521Val
XM_011509367.1:c.1562C>T	XP_011507669.1:p.Ala521Val
XM_011509368.1:c.980C>T	XP_011507670.1:p.Ala327Val
XM_011509369.1:c.5C>T	XP_011507671.1:p.Ala2Val
XM_011509365.2:c.1562C>T	XP_011507667.1:p.Ala521Val
XM_011509369.2:c.5C>T	XP_011507671.1:p.Ala2Val
XM_017000851.1:c.719C>T	XP_016856340.1:p.Ala240Val
XM_017000852.1:c.1562C>T	XP_016856341.1:p.Ala521Val
NM_201253.3:c.1562C>T MANE Select	NP_957705.1:p.Ala521Val
NM_001193640.2:c.1226C>T	NP_001180569.1:p.Ala409Val
NM_001257965.2:c.1355C>T	NP_001244894.1:p.Ala452Val
NR_047563.2:n.1723C>T
NR_047564.2:n.1723C>T
NM_001257966.2:c.1562C>T	NP_001244895.1:p.Ala521Val