Canonical Allele Identifier: CA253490

Gene: WRN

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31150454A>T , CM000670.2:g.31150454A>T	GRCh38
NC_000008.10:g.31007970A>T , CM000670.1:g.31007970A>T	GRCh37
NC_000008.9:g.31127512A>T	NCBI36
NG_008870.1:g.122193A>T , LRG_524:g.122193A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3686A>T MANE Select	ENSP00000298139.5:p.Gln1229Leu
ENST00000650667.1:c.*3300A>T	ENSP00000498593.1:n.*3300A>T
ENST00000298139.5:c.3686A>T	ENSP00000298139.5:p.Gln1229Leu
ENST00000521620.5:n.2319A>T
NM_000553.4:c.3686A>T , LRG_524t1:c.3686A>T	NP_000544.2:p.Gln1229Leu
XM_011544639.1:c.3605A>T	XP_011542941.1:p.Gln1202Leu
XM_011544640.1:c.2087A>T	XP_011542942.1:p.Gln696Leu
XR_949470.1:n.3959A>T
XR_949471.1:n.3959A>T
XR_949472.1:n.3959A>T
XR_949643.1:n.457-1789T>A
XR_949644.1:n.381-1789T>A
XR_949647.1:n.1070-1789T>A
XR_949648.1:n.972-1789T>A
NM_000553.5:c.3686A>T	NP_000544.2:p.Gln1229Leu
XM_011544639.3:c.3605A>T	XP_011542941.1:p.Gln1202Leu
XM_024447265.1:c.3476A>T	XP_024303033.1:p.Gln1159Leu
XR_949470.3:n.3987A>T
XR_949471.3:n.3987A>T
XR_949472.3:n.3987A>T
NM_000553.6:c.3686A>T MANE Select	NP_000544.2:p.Gln1229Leu