Canonical Allele Identifier: CA10630836

Gene: PURG WRN

Linked Data

• ClinVar Variation Id: 362771
• ClinVar RCV Id: RCV000374756
• dbSNP Id: rs578121063
• gnomAD v2: 8-30890867-G-C
• gnomAD v3: 8-31033351-G-C
• gnomAD v4: 8-31033351-G-C
• MyVariant Identifiers: chr8:g.30890867G>C (hg19) ; chr8:g.31033351G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31033351G>C , CM000670.2:g.31033351G>C	GRCh38
NC_000008.10:g.30890867G>C , CM000670.1:g.30890867G>C	GRCh37
NC_000008.9:g.31010409G>C	NCBI36
NG_008870.1:g.5090G>C , LRG_524:g.5090G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475541.2:c.-569C>G (PURG)	ENSP00000418721.1:n.-569C>G
ENST00000523392.2:c.-280C>G (PURG) MANE Select	ENSP00000466881.2:n.-280C>G
ENST00000339382.3:c.-569C>G (PURG)	ENSP00000345168.2:n.-569C>G
ENST00000475541.1:c.-569C>G (PURG)	ENSP00000418721.1:n.-569C>G
NM_000553.4:c.-699G>C , LRG_524t1:c.-699G>C (WRN)	NP_000544.2:n.-699G>C
NM_001015508.2:c.-569C>G (PURG)	NP_001015508.1:n.-569C>G
NM_000553.5:c.-699G>C (WRN)	NP_000544.2:n.-699G>C
NM_001015508.3:c.-569C>G (PURG)	NP_001015508.1:n.-569C>G
NM_001323312.2:c.-280C>G (PURG)	NP_001310241.1:n.-280C>G
NM_001323311.2:c.-280C>G (PURG) MANE Select	NP_001310240.1:n.-280C>G