Canonical Allele Identifier: CA344267

Gene: WRAP53

Linked Data

• ClinVar Variation Id: 41252
• ClinVar RCV Id: RCV000034152 ; RCV000439983
• dbSNP Id: rs281865547
• gnomAD v4: 17-7689284-C-A
• MyVariant Identifiers: chr17:g.7592602C>A (hg19) ; chr17:g.7689284C>A (hg38)
• PubMed: PMID:20301779 ; PMID:21205863

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7689284C>A , CM000679.2:g.7689284C>A	GRCh38
NC_000017.10:g.7592602C>A , CM000679.1:g.7592602C>A	GRCh37
NC_000017.9:g.7533327C>A	NCBI36
NG_017013.2:g.3267G>T , LRG_321:g.3267G>T
NG_028245.1:g.8214C>A , LRG_375:g.8214C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698742.1:c.492C>A	ENSP00000513904.1:p.Phe164Leu
ENST00000698743.1:c.492C>A	ENSP00000513905.1:p.Phe164Leu
ENST00000698744.1:c.492C>A	ENSP00000513906.1:p.Phe164Leu
ENST00000698745.1:c.492C>A	ENSP00000513907.1:p.Phe164Leu
ENST00000698746.1:c.492C>A	ENSP00000513908.1:p.Phe164Leu
ENST00000396463.7:c.492C>A MANE Select	ENSP00000379727.3:p.Phe164Leu
ENST00000316024.9:c.492C>A	ENSP00000324203.5:p.Phe164Leu
ENST00000396463.6:c.492C>A	ENSP00000379727.2:p.Phe164Leu
ENST00000431639.6:c.492C>A	ENSP00000397219.2:p.Phe164Leu
ENST00000457584.6:c.492C>A	ENSP00000411061.2:p.Phe164Leu
ENST00000467699.5:n.578C>A
ENST00000498311.5:c.492C>A	ENSP00000432991.1:p.Phe164Leu
ENST00000534050.5:c.431+205C>A	ENSP00000434999.1:n.431+205C>A
NM_001143990.1:c.492C>A	NP_001137462.1:p.Phe164Leu
NM_001143991.1:c.492C>A	NP_001137463.1:p.Phe164Leu
NM_001143992.1:c.492C>A	NP_001137464.1:p.Phe164Leu
NM_018081.2:c.492C>A , LRG_375t1:c.492C>A	NP_060551.2:p.Phe164Leu
XM_011523952.1:c.-141C>A	XP_011522254.1:n.-141C>A
XM_011523952.2:c.-141C>A	XP_011522254.1:n.-141C>A
XM_024450824.1:c.-1584C>A	XP_024306592.1:n.-1584C>A
XM_024450825.1:c.492C>A	XP_024306593.1:p.Phe164Leu
XR_001752551.2:n.737C>A
NM_001143991.2:c.492C>A	NP_001137463.1:p.Phe164Leu
NM_001143992.2:c.492C>A MANE Select	NP_001137464.1:p.Phe164Leu
NM_001143990.2:c.492C>A	NP_001137462.1:p.Phe164Leu