Canonical Allele Identifier: CA344045530

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404096C>A (hg19) ; chr1:g.197434966C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434966C>A , CM000663.2:g.197434966C>A	GRCh38
NC_000001.10:g.197404096C>A , CM000663.1:g.197404096C>A	GRCh37
NC_000001.9:g.195670719C>A	NCBI36
NG_008483.1:g.171689C>A
NG_008483.2:g.238505C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3103C>A MANE Select	ENSP00000356370.3:p.His1035Asn
ENST00000638467.1:c.3103C>A	ENSP00000491102.1:p.His1035Asn
ENST00000681519.1:c.1984C>A	ENSP00000505267.1:p.His662Asn
ENST00000367397.1:c.1246C>A	ENSP00000356367.1:p.His416Asn
ENST00000367399.6:c.2767C>A	ENSP00000356369.2:p.His923Asn
ENST00000367400.7:c.3103C>A	ENSP00000356370.3:p.His1035Asn
ENST00000484075.5:c.3103C>A	ENSP00000433932.1:p.His1035Asn
ENST00000535699.5:c.3031C>A	ENSP00000438786.1:p.His1011Asn
ENST00000538660.5:c.2129-634C>A	ENSP00000438091.1:n.2129-634C>A
NM_001193640.1:c.2767C>A	NP_001180569.1:p.His923Asn
NM_001257965.1:c.3031C>A	NP_001244894.1:p.His1011Asn
NM_001257966.1:c.2129-634C>A	NP_001244895.1:n.2129-634C>A
NM_201253.2:c.3103C>A	NP_957705.1:p.His1035Asn
NR_047563.1:n.3104C>A
NR_047564.1:n.3312C>A
XM_011509365.1:c.3103C>A	XP_011507667.1:p.His1035Asn
XM_011509366.1:c.3103C>A	XP_011507668.1:p.His1035Asn
XM_011509367.1:c.3103C>A	XP_011507669.1:p.His1035Asn
XM_011509368.1:c.2521C>A	XP_011507670.1:p.His841Asn
XM_011509369.1:c.1546C>A	XP_011507671.1:p.His516Asn
XM_011509365.2:c.3103C>A	XP_011507667.1:p.His1035Asn
XM_011509369.2:c.1546C>A	XP_011507671.1:p.His516Asn
XM_017000851.1:c.2260C>A	XP_016856340.1:p.His754Asn
XM_017000852.1:c.3238C>A	XP_016856341.1:p.His1080Asn
NM_201253.3:c.3103C>A MANE Select	NP_957705.1:p.His1035Asn
NM_001193640.2:c.2767C>A	NP_001180569.1:p.His923Asn
NM_001257965.2:c.3031C>A	NP_001244894.1:p.His1011Asn
NR_047563.2:n.3056C>A
NR_047564.2:n.3264C>A
NM_001257966.2:c.2129-634C>A	NP_001244895.1:n.2129-634C>A