Canonical Allele Identifier: CA349282201

Gene: CYBRD1

Linked Data

• gnomAD v4: 2-171554664-C-A
• MyVariant Identifiers: chr2:g.172411174C>A (hg19) ; chr2:g.171554664C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171554664C>A , CM000664.2:g.171554664C>A	GRCh38
NC_000002.11:g.172411174C>A , CM000664.1:g.172411174C>A	GRCh37
NC_000002.10:g.172119420C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321348.9:c.698C>A MANE Select	ENSP00000319141.4:p.Thr233Asn
ENST00000321348.8:c.698C>A	ENSP00000319141.4:p.Thr233Asn
ENST00000375252.3:c.*15C>A	ENSP00000364401.3:n.*15C>A
ENST00000409484.5:c.524C>A	ENSP00000386739.1:p.Thr175Asn
NM_001127383.1:c.*15C>A	NP_001120855.1:n.*15C>A
NM_001256909.1:c.524C>A	NP_001243838.1:p.Thr175Asn
NM_024843.3:c.698C>A	NP_079119.3:p.Thr233Asn
NM_024843.4:c.698C>A MANE Select	NP_079119.3:p.Thr233Asn
NM_001127383.2:c.*15C>A	NP_001120855.1:n.*15C>A
NM_001256909.2:c.524C>A	NP_001243838.1:p.Thr175Asn