Canonical Allele Identifier: CA397859203

Gene: WRAP53

Linked Data

• ClinVar Variation Id: 2193352
• ClinVar RCV Id: RCV002623939
• dbSNP Id: rs1214755830
• gnomAD v2: 17-7592339-T-C
• gnomAD v3: 17-7689021-T-C
• gnomAD v4: 17-7689021-T-C
• MyVariant Identifiers: chr17:g.7592339T>C (hg19) ; chr17:g.7689021T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7689021T>C , CM000679.2:g.7689021T>C	GRCh38
NC_000017.10:g.7592339T>C , CM000679.1:g.7592339T>C	GRCh37
NC_000017.9:g.7533064T>C	NCBI36
NG_017013.2:g.3530A>G , LRG_321:g.3530A>G
NG_028245.1:g.7951T>C , LRG_375:g.7951T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698742.1:c.373T>C	ENSP00000513904.1:p.Ser125Pro
ENST00000698743.1:c.373T>C	ENSP00000513905.1:p.Ser125Pro
ENST00000698744.1:c.373T>C	ENSP00000513906.1:p.Ser125Pro
ENST00000698745.1:c.373T>C	ENSP00000513907.1:p.Ser125Pro
ENST00000698746.1:c.373T>C	ENSP00000513908.1:p.Ser125Pro
ENST00000396463.7:c.373T>C MANE Select	ENSP00000379727.3:p.Ser125Pro
ENST00000316024.9:c.373T>C	ENSP00000324203.5:p.Ser125Pro
ENST00000396463.6:c.373T>C	ENSP00000379727.2:p.Ser125Pro
ENST00000431639.6:c.373T>C	ENSP00000397219.2:p.Ser125Pro
ENST00000457584.6:c.373T>C	ENSP00000411061.2:p.Ser125Pro
ENST00000467699.5:n.459T>C
ENST00000498311.5:c.373T>C	ENSP00000432991.1:p.Ser125Pro
ENST00000534050.5:c.373T>C	ENSP00000434999.1:p.Ser125Pro
NM_001143990.1:c.373T>C	NP_001137462.1:p.Ser125Pro
NM_001143991.1:c.373T>C	NP_001137463.1:p.Ser125Pro
NM_001143992.1:c.373T>C	NP_001137464.1:p.Ser125Pro
NM_018081.2:c.373T>C , LRG_375t1:c.373T>C	NP_060551.2:p.Ser125Pro
XM_011523952.2:c.-260T>C	XP_011522254.1:n.-260T>C
XM_024450824.1:c.-1703T>C	XP_024306592.1:n.-1703T>C
XM_024450825.1:c.373T>C	XP_024306593.1:p.Ser125Pro
XR_001752551.2:n.618T>C
NM_001143991.2:c.373T>C	NP_001137463.1:p.Ser125Pro
NM_001143992.2:c.373T>C MANE Select	NP_001137464.1:p.Ser125Pro
NM_001143990.2:c.373T>C	NP_001137462.1:p.Ser125Pro