Canonical Allele Identifier: CA8355410

Gene: WRAP53

Linked Data

• ClinVar Variation Id: 260999
• ClinVar RCV Id: RCV000243801 ; RCV000262444 ; RCV002401960 ; RCV001516491
• dbSNP Id: rs7640
• ExAC: 17:7606722 C / G
• gnomAD v2: 17-7606722-C-G
• gnomAD v3: 17-7703404-C-G
• gnomAD v4: 17-7703404-C-G
• MyVariant Identifiers: chr17:g.7606722C>G (hg19) ; chr17:g.7703404C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7703404C>G , CM000679.2:g.7703404C>G	GRCh38
NC_000017.10:g.7606722C>G , CM000679.1:g.7606722C>G	GRCh37
NC_000017.9:g.7547447C>G	NCBI36
NG_028245.1:g.22334C>G , LRG_375:g.22334C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698743.1:c.*1298C>G	ENSP00000513905.1:n.*1298C>G
ENST00000698744.1:c.*1225C>G	ENSP00000513906.1:n.*1225C>G
ENST00000698745.1:c.*1009C>G	ENSP00000513907.1:n.*1009C>G
ENST00000698746.1:c.1430C>G	ENSP00000513908.1:p.Ala477Gly
ENST00000698747.1:c.1157C>G	ENSP00000513909.1:p.Ala386Gly
ENST00000396463.7:c.1565C>G MANE Select	ENSP00000379727.3:p.Ala522Gly
ENST00000316024.9:c.1565C>G	ENSP00000324203.5:p.Ala522Gly
ENST00000396463.6:c.1565C>G	ENSP00000379727.2:p.Ala522Gly
ENST00000431639.6:c.1565C>G	ENSP00000397219.2:p.Ala522Gly
ENST00000457584.6:c.1565C>G	ENSP00000411061.2:p.Ala522Gly
ENST00000467699.5:n.2427C>G
ENST00000471973.6:n.900C>G
ENST00000498114.1:n.409C>G
ENST00000498311.5:c.*733C>G	ENSP00000432991.1:n.*733C>G
ENST00000534050.5:c.1466C>G	ENSP00000434999.1:p.Ala489Gly
NM_001143990.1:c.1565C>G	NP_001137462.1:p.Ala522Gly
NM_001143991.1:c.1565C>G	NP_001137463.1:p.Ala522Gly
NM_001143992.1:c.1565C>G	NP_001137464.1:p.Ala522Gly
NM_018081.2:c.1565C>G , LRG_375t1:c.1565C>G	NP_060551.2:p.Ala522Gly
XM_011523952.1:c.926C>G	XP_011522254.1:p.Ala309Gly
XM_011523952.2:c.926C>G	XP_011522254.1:p.Ala309Gly
XM_024450824.1:c.773C>G	XP_024306592.1:p.Ala258Gly
XR_001752551.2:n.1842C>G
NM_001143991.2:c.1565C>G	NP_001137463.1:p.Ala522Gly
NM_001143992.2:c.1565C>G MANE Select	NP_001137464.1:p.Ala522Gly
NM_001143990.2:c.1565C>G	NP_001137462.1:p.Ala522Gly