Canonical Allele Identifier: CA460488436

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30999107T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141591T>C , CM000670.2:g.31141591T>C	GRCh38
NC_000008.10:g.30999107T>C , CM000670.1:g.30999107T>C	GRCh37
NC_000008.9:g.31118649T>C	NCBI36
NG_008870.1:g.113330T>C , LRG_524:g.113330T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3129T>C MANE Select	ENSP00000298139.5:p.Leu1043=
ENST00000650667.1:c.*2743T>C	ENSP00000498593.1:n.*2743T>C
ENST00000298139.5:c.3129T>C	ENSP00000298139.5:p.Leu1043=
ENST00000521620.5:n.1762T>C
NM_000553.4:c.3129T>C , LRG_524t1:c.3129T>C	NP_000544.2:p.Leu1043=
XM_011544639.1:c.3048T>C	XP_011542941.1:p.Leu1016=
XM_011544640.1:c.1530T>C	XP_011542942.1:p.Leu510=
XR_949470.1:n.3402T>C
XR_949471.1:n.3402T>C
XR_949472.1:n.3402T>C
NM_000553.5:c.3129T>C	NP_000544.2:p.Leu1043=
XM_011544639.3:c.3048T>C	XP_011542941.1:p.Leu1016=
XM_024447265.1:c.2919T>C	XP_024303033.1:p.Leu973=
XR_949470.3:n.3430T>C
XR_949471.3:n.3430T>C
XR_949472.3:n.3430T>C
NM_000553.6:c.3129T>C MANE Select	NP_000544.2:p.Leu1043=