Canonical Allele Identifier: CA345899571

Gene: DDX1

Linked Data

• ClinVar Variation Id: 2555242
• ClinVar RCV Id: RCV004325001
• MyVariant Identifiers: chr2:g.15769772C>T (hg19) ; chr2:g.15629648C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15629648C>T , CM000664.2:g.15629648C>T	GRCh38
NC_000002.11:g.15769772C>T , CM000664.1:g.15769772C>T	GRCh37
NC_000002.10:g.15687223C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233084.8:c.1922C>T MANE Select	ENSP00000233084.3:p.Thr641Ile
ENST00000381341.7:c.1922C>T	ENSP00000370745.1:p.Thr641Ile
ENST00000434671.2:c.1922C>T	ENSP00000413767.2:p.Thr641Ile
ENST00000470674.2:n.4922C>T
ENST00000478695.2:n.3542C>T
ENST00000617198.5:c.1646C>T	ENSP00000482416.2:p.Thr549Ile
ENST00000621973.2:c.1610C>T	ENSP00000484958.2:p.Thr537Ile
ENST00000676635.1:c.*256C>T	ENSP00000504060.1:n.*256C>T
ENST00000676759.1:n.3091C>T
ENST00000676916.1:c.1904C>T	ENSP00000503949.1:p.Thr635Ile
ENST00000676937.1:c.1793C>T	ENSP00000503720.1:p.Thr598Ile
ENST00000677302.1:c.1922C>T	ENSP00000504080.1:p.Thr641Ile
ENST00000677355.1:c.*2372C>T	ENSP00000503705.1:n.*2372C>T
ENST00000677437.1:c.*901C>T	ENSP00000504817.1:n.*901C>T
ENST00000677552.1:c.*1465C>T	ENSP00000504225.1:n.*1465C>T
ENST00000677649.1:n.3396C>T
ENST00000678137.1:c.1889C>T	ENSP00000503001.1:p.Thr630Ile
ENST00000678391.1:c.*1465C>T	ENSP00000503358.1:n.*1465C>T
ENST00000678536.1:n.2243C>T
ENST00000678594.1:c.1793C>T	ENSP00000502982.1:p.Thr598Ile
ENST00000678755.1:n.2329C>T
ENST00000678786.1:c.1733C>T	ENSP00000502926.1:p.Thr578Ile
ENST00000679227.1:n.2209C>T
ENST00000233084.7:c.1922C>T	ENSP00000233084.3:p.Thr641Ile
ENST00000381341.6:c.1922C>T	ENSP00000370745.1:p.Thr641Ile
ENST00000617198.4:c.1679C>T	ENSP00000482416.1:p.Thr560Ile
ENST00000621973.1:c.1679C>T	ENSP00000484958.1:p.Thr560Ile
NM_004939.2:c.1922C>T	NP_004930.1:p.Thr641Ile
NM_004939.3:c.1922C>T MANE Select	NP_004930.1:p.Thr641Ile