Canonical Allele Identifier: CA460488500

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30999247T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141731T>C , CM000670.2:g.31141731T>C	GRCh38
NC_000008.10:g.30999247T>C , CM000670.1:g.30999247T>C	GRCh37
NC_000008.9:g.31118789T>C	NCBI36
NG_008870.1:g.113470T>C , LRG_524:g.113470T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3189T>C MANE Select	ENSP00000298139.5:p.Leu1063=
ENST00000650667.1:c.*2803T>C	ENSP00000498593.1:n.*2803T>C
ENST00000298139.5:c.3189T>C	ENSP00000298139.5:p.Leu1063=
ENST00000521620.5:n.1822T>C
NM_000553.4:c.3189T>C , LRG_524t1:c.3189T>C	NP_000544.2:p.Leu1063=
XM_011544639.1:c.3108T>C	XP_011542941.1:p.Leu1036=
XM_011544640.1:c.1590T>C	XP_011542942.1:p.Leu530=
XR_949470.1:n.3462T>C
XR_949471.1:n.3462T>C
XR_949472.1:n.3462T>C
NM_000553.5:c.3189T>C	NP_000544.2:p.Leu1063=
XM_011544639.3:c.3108T>C	XP_011542941.1:p.Leu1036=
XM_024447265.1:c.2979T>C	XP_024303033.1:p.Leu993=
XR_949470.3:n.3490T>C
XR_949471.3:n.3490T>C
XR_949472.3:n.3490T>C
NM_000553.6:c.3189T>C MANE Select	NP_000544.2:p.Leu1063=