Canonical Allele Identifier: CA1312265

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2042412
• ClinVar RCV Id: RCV002895548
• dbSNP Id: rs541014050
• ExAC: 1:197404034 G / A
• gnomAD v2: 1-197404034-G-A
• gnomAD v3: 1-197434904-G-A
• gnomAD v4: 1-197434904-G-A
• MyVariant Identifiers: chr1:g.197404034G>A (hg19) ; chr1:g.197434904G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434904G>A , CM000663.2:g.197434904G>A	GRCh38
NC_000001.10:g.197404034G>A , CM000663.1:g.197404034G>A	GRCh37
NC_000001.9:g.195670657G>A	NCBI36
NG_008483.1:g.171627G>A
NG_008483.2:g.238443G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3041G>A MANE Select	ENSP00000356370.3:p.Ser1014Asn
ENST00000638467.1:c.3041G>A	ENSP00000491102.1:p.Ser1014Asn
ENST00000681519.1:c.1922G>A	ENSP00000505267.1:p.Ser641Asn
ENST00000367397.1:c.1184G>A	ENSP00000356367.1:p.Ser395Asn
ENST00000367399.6:c.2705G>A	ENSP00000356369.2:p.Ser902Asn
ENST00000367400.7:c.3041G>A	ENSP00000356370.3:p.Ser1014Asn
ENST00000484075.5:c.3041G>A	ENSP00000433932.1:p.Ser1014Asn
ENST00000535699.5:c.2969G>A	ENSP00000438786.1:p.Ser990Asn
ENST00000538660.5:c.2129-696G>A	ENSP00000438091.1:n.2129-696G>A
NM_001193640.1:c.2705G>A	NP_001180569.1:p.Ser902Asn
NM_001257965.1:c.2969G>A	NP_001244894.1:p.Ser990Asn
NM_001257966.1:c.2129-696G>A	NP_001244895.1:n.2129-696G>A
NM_201253.2:c.3041G>A	NP_957705.1:p.Ser1014Asn
NR_047563.1:n.3042G>A
NR_047564.1:n.3250G>A
XM_011509365.1:c.3041G>A	XP_011507667.1:p.Ser1014Asn
XM_011509366.1:c.3041G>A	XP_011507668.1:p.Ser1014Asn
XM_011509367.1:c.3041G>A	XP_011507669.1:p.Ser1014Asn
XM_011509368.1:c.2459G>A	XP_011507670.1:p.Ser820Asn
XM_011509369.1:c.1484G>A	XP_011507671.1:p.Ser495Asn
XM_011509365.2:c.3041G>A	XP_011507667.1:p.Ser1014Asn
XM_011509369.2:c.1484G>A	XP_011507671.1:p.Ser495Asn
XM_017000851.1:c.2198G>A	XP_016856340.1:p.Ser733Asn
XM_017000852.1:c.3176G>A	XP_016856341.1:p.Ser1059Asn
NM_201253.3:c.3041G>A MANE Select	NP_957705.1:p.Ser1014Asn
NM_001193640.2:c.2705G>A	NP_001180569.1:p.Ser902Asn
NM_001257965.2:c.2969G>A	NP_001244894.1:p.Ser990Asn
NR_047563.2:n.2994G>A
NR_047564.2:n.3202G>A
NM_001257966.2:c.2129-696G>A	NP_001244895.1:n.2129-696G>A