Canonical Allele Identifier: CA370921937

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30999007A>T (hg19) ; chr8:g.31141491A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141491A>T , CM000670.2:g.31141491A>T	GRCh38
NC_000008.10:g.30999007A>T , CM000670.1:g.30999007A>T	GRCh37
NC_000008.9:g.31118549A>T	NCBI36
NG_008870.1:g.113230A>T , LRG_524:g.113230A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3029A>T MANE Select	ENSP00000298139.5:p.Gln1010Leu
ENST00000650667.1:c.*2643A>T	ENSP00000498593.1:n.*2643A>T
ENST00000298139.5:c.3029A>T	ENSP00000298139.5:p.Gln1010Leu
ENST00000521620.5:n.1662A>T
NM_000553.4:c.3029A>T , LRG_524t1:c.3029A>T	NP_000544.2:p.Gln1010Leu
XM_011544639.1:c.2948A>T	XP_011542941.1:p.Gln983Leu
XM_011544640.1:c.1430A>T	XP_011542942.1:p.Gln477Leu
XR_949470.1:n.3302A>T
XR_949471.1:n.3302A>T
XR_949472.1:n.3302A>T
NM_000553.5:c.3029A>T	NP_000544.2:p.Gln1010Leu
XM_011544639.3:c.2948A>T	XP_011542941.1:p.Gln983Leu
XM_024447265.1:c.2819A>T	XP_024303033.1:p.Gln940Leu
XR_949470.3:n.3330A>T
XR_949471.3:n.3330A>T
XR_949472.3:n.3330A>T
NM_000553.6:c.3029A>T MANE Select	NP_000544.2:p.Gln1010Leu