Canonical Allele Identifier: CA4704784
Community Standard Title: NM_000553.6(WRN):c.2596G>A (p.Val866Ile)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31120390G>A , CM000670.2:g.31120390G>A GRCh38
NC_000008.10:g.30977906G>A , CM000670.1:g.30977906G>A GRCh37
NC_000008.9:g.31097448G>A NCBI36
NG_008870.1:g.92129G>A , LRG_524:g.92129G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.2596G>A MANE Select NP_000544.2:p.Val866Ile
ENST00000298139.7:c.2596G>A MANE Select ENSP00000298139.5:p.Val866Ile
NM_000553.4:c.2596G>A , LRG_524t1:c.2596G>A NP_000544.2:p.Val866Ile
NM_000553.5:c.2596G>A NP_000544.2:p.Val866Ile
ENST00000298139.5:c.2596G>A ENSP00000298139.5:p.Val866Ile
ENST00000520169.1:n.435G>A
ENST00000521620.5:n.1229G>A
ENST00000650667.1:c.*2210G>A ENSP00000498593.1:n.*2210G>A
XM_011544639.1:c.2515G>A XP_011542941.1:p.Val839Ile
XM_011544639.3:c.2515G>A XP_011542941.1:p.Val839Ile
XM_011544640.1:c.997G>A XP_011542942.1:p.Val333Ile
XM_024447265.1:c.2386G>A XP_024303033.1:p.Val796Ile
XR_949470.1:n.2869G>A
XR_949470.3:n.2897G>A
XR_949471.1:n.2869G>A
XR_949471.3:n.2897G>A
XR_949472.1:n.2869G>A
XR_949472.3:n.2897G>A