Canonical Allele Identifier: CA349282244

Gene: CYBRD1

Linked Data

• dbSNP Id: rs1683450958
• gnomAD v3: 2-171554675-C-A
• gnomAD v4: 2-171554675-C-A
• MyVariant Identifiers: chr2:g.172411185C>A (hg19) ; chr2:g.171554675C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171554675C>A , CM000664.2:g.171554675C>A	GRCh38
NC_000002.11:g.172411185C>A , CM000664.1:g.172411185C>A	GRCh37
NC_000002.10:g.172119431C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000321348.9:c.709C>A MANE Select	ENSP00000319141.4:p.Pro237Thr
ENST00000321348.8:c.709C>A	ENSP00000319141.4:p.Pro237Thr
ENST00000375252.3:c.*26C>A	ENSP00000364401.3:n.*26C>A
ENST00000409484.5:c.535C>A	ENSP00000386739.1:p.Pro179Thr
NM_001127383.1:c.*26C>A	NP_001120855.1:n.*26C>A
NM_001256909.1:c.535C>A	NP_001243838.1:p.Pro179Thr
NM_024843.3:c.709C>A	NP_079119.3:p.Pro237Thr
NM_024843.4:c.709C>A MANE Select	NP_079119.3:p.Pro237Thr
NM_001127383.2:c.*26C>A	NP_001120855.1:n.*26C>A
NM_001256909.2:c.535C>A	NP_001243838.1:p.Pro179Thr