Canonical Allele Identifier: CA344045141

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404058G>A (hg19) ; chr1:g.197434928G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434928G>A , CM000663.2:g.197434928G>A	GRCh38
NC_000001.10:g.197404058G>A , CM000663.1:g.197404058G>A	GRCh37
NC_000001.9:g.195670681G>A	NCBI36
NG_008483.1:g.171651G>A
NG_008483.2:g.238467G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3065G>A MANE Select	ENSP00000356370.3:p.Ser1022Asn
ENST00000638467.1:c.3065G>A	ENSP00000491102.1:p.Ser1022Asn
ENST00000681519.1:c.1946G>A	ENSP00000505267.1:p.Ser649Asn
ENST00000367397.1:c.1208G>A	ENSP00000356367.1:p.Ser403Asn
ENST00000367399.6:c.2729G>A	ENSP00000356369.2:p.Ser910Asn
ENST00000367400.7:c.3065G>A	ENSP00000356370.3:p.Ser1022Asn
ENST00000484075.5:c.3065G>A	ENSP00000433932.1:p.Ser1022Asn
ENST00000535699.5:c.2993G>A	ENSP00000438786.1:p.Ser998Asn
ENST00000538660.5:c.2129-672G>A	ENSP00000438091.1:n.2129-672G>A
NM_001193640.1:c.2729G>A	NP_001180569.1:p.Ser910Asn
NM_001257965.1:c.2993G>A	NP_001244894.1:p.Ser998Asn
NM_001257966.1:c.2129-672G>A	NP_001244895.1:n.2129-672G>A
NM_201253.2:c.3065G>A	NP_957705.1:p.Ser1022Asn
NR_047563.1:n.3066G>A
NR_047564.1:n.3274G>A
XM_011509365.1:c.3065G>A	XP_011507667.1:p.Ser1022Asn
XM_011509366.1:c.3065G>A	XP_011507668.1:p.Ser1022Asn
XM_011509367.1:c.3065G>A	XP_011507669.1:p.Ser1022Asn
XM_011509368.1:c.2483G>A	XP_011507670.1:p.Ser828Asn
XM_011509369.1:c.1508G>A	XP_011507671.1:p.Ser503Asn
XM_011509365.2:c.3065G>A	XP_011507667.1:p.Ser1022Asn
XM_011509369.2:c.1508G>A	XP_011507671.1:p.Ser503Asn
XM_017000851.1:c.2222G>A	XP_016856340.1:p.Ser741Asn
XM_017000852.1:c.3200G>A	XP_016856341.1:p.Ser1067Asn
NM_201253.3:c.3065G>A MANE Select	NP_957705.1:p.Ser1022Asn
NM_001193640.2:c.2729G>A	NP_001180569.1:p.Ser910Asn
NM_001257965.2:c.2993G>A	NP_001244894.1:p.Ser998Asn
NR_047563.2:n.3018G>A
NR_047564.2:n.3226G>A
NM_001257966.2:c.2129-672G>A	NP_001244895.1:n.2129-672G>A