Canonical Allele Identifier: CA370922586

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30999102G>T (hg19) ; chr8:g.31141586G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141586G>T , CM000670.2:g.31141586G>T	GRCh38
NC_000008.10:g.30999102G>T , CM000670.1:g.30999102G>T	GRCh37
NC_000008.9:g.31118644G>T	NCBI36
NG_008870.1:g.113325G>T , LRG_524:g.113325G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3124G>T MANE Select	ENSP00000298139.5:p.Ala1042Ser
ENST00000650667.1:c.*2738G>T	ENSP00000498593.1:n.*2738G>T
ENST00000298139.5:c.3124G>T	ENSP00000298139.5:p.Ala1042Ser
ENST00000521620.5:n.1757G>T
NM_000553.4:c.3124G>T , LRG_524t1:c.3124G>T	NP_000544.2:p.Ala1042Ser
XM_011544639.1:c.3043G>T	XP_011542941.1:p.Ala1015Ser
XM_011544640.1:c.1525G>T	XP_011542942.1:p.Ala509Ser
XR_949470.1:n.3397G>T
XR_949471.1:n.3397G>T
XR_949472.1:n.3397G>T
NM_000553.5:c.3124G>T	NP_000544.2:p.Ala1042Ser
XM_011544639.3:c.3043G>T	XP_011542941.1:p.Ala1015Ser
XM_024447265.1:c.2914G>T	XP_024303033.1:p.Ala972Ser
XR_949470.3:n.3425G>T
XR_949471.3:n.3425G>T
XR_949472.3:n.3425G>T
NM_000553.6:c.3124G>T MANE Select	NP_000544.2:p.Ala1042Ser