Canonical Allele Identifier: CA240995

Gene: WRN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31100859C>T , CM000670.2:g.31100859C>T	GRCh38
NC_000008.10:g.30958375C>T , CM000670.1:g.30958375C>T	GRCh37
NC_000008.9:g.31077917C>T	NCBI36
NG_008870.1:g.72598C>T , LRG_524:g.72598C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.1992C>T MANE Select	ENSP00000298139.5:p.Leu664=
ENST00000650667.1:c.*1606C>T	ENSP00000498593.1:n.*1606C>T
ENST00000298139.5:c.1992C>T	ENSP00000298139.5:p.Leu664=
ENST00000521620.5:n.625C>T
NM_000553.4:c.1992C>T , LRG_524t1:c.1992C>T	NP_000544.2:p.Leu664=
XM_011544639.1:c.1911C>T	XP_011542941.1:p.Leu637=
XM_011544640.1:c.393C>T	XP_011542942.1:p.Leu131=
XR_949470.1:n.2265C>T
XR_949471.1:n.2265C>T
XR_949472.1:n.2265C>T
NM_000553.5:c.1992C>T	NP_000544.2:p.Leu664=
XM_011544639.3:c.1911C>T	XP_011542941.1:p.Leu637=
XM_024447265.1:c.1782C>T	XP_024303033.1:p.Leu594=
XR_949470.3:n.2293C>T
XR_949471.3:n.2293C>T
XR_949472.3:n.2293C>T
NM_000553.6:c.1992C>T MANE Select	NP_000544.2:p.Leu664=