Canonical Allele Identifier: CA370925145

Gene: WRN

Linked Data

• dbSNP Id: rs1802882227
• MyVariant Identifiers: chr8:g.31004572C>G (hg19) ; chr8:g.31147056C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147056C>G , CM000670.2:g.31147056C>G	GRCh38
NC_000008.10:g.31004572C>G , CM000670.1:g.31004572C>G	GRCh37
NC_000008.9:g.31124114C>G	NCBI36
NG_008870.1:g.118795C>G , LRG_524:g.118795C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3387C>G MANE Select	ENSP00000298139.5:p.Ile1129Met
ENST00000650667.1:c.*3001C>G	ENSP00000498593.1:n.*3001C>G
ENST00000298139.5:c.3387C>G	ENSP00000298139.5:p.Ile1129Met
ENST00000521620.5:n.2020C>G
NM_000553.4:c.3387C>G , LRG_524t1:c.3387C>G	NP_000544.2:p.Ile1129Met
XM_011544639.1:c.3306C>G	XP_011542941.1:p.Ile1102Met
XM_011544640.1:c.1788C>G	XP_011542942.1:p.Ile596Met
XR_949470.1:n.3660C>G
XR_949471.1:n.3660C>G
XR_949472.1:n.3660C>G
XR_949643.1:n.614+1452G>C
NM_000553.5:c.3387C>G	NP_000544.2:p.Ile1129Met
XM_011544639.3:c.3306C>G	XP_011542941.1:p.Ile1102Met
XM_024447265.1:c.3177C>G	XP_024303033.1:p.Ile1059Met
XR_949470.3:n.3688C>G
XR_949471.3:n.3688C>G
XR_949472.3:n.3688C>G
NM_000553.6:c.3387C>G MANE Select	NP_000544.2:p.Ile1129Met