Canonical Allele Identifier: CA370928826

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.31012144A>C (hg19) ; chr8:g.31154628A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31154628A>C , CM000670.2:g.31154628A>C	GRCh38
NC_000008.10:g.31012144A>C , CM000670.1:g.31012144A>C	GRCh37
NC_000008.9:g.31131686A>C	NCBI36
NG_008870.1:g.126367A>C , LRG_524:g.126367A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3692A>C MANE Select	ENSP00000298139.5:p.Asp1231Ala
ENST00000650667.1:c.*3306A>C	ENSP00000498593.1:n.*3306A>C
ENST00000298139.5:c.3692A>C	ENSP00000298139.5:p.Asp1231Ala
ENST00000521620.5:n.2325A>C
NM_000553.4:c.3692A>C , LRG_524t1:c.3692A>C	NP_000544.2:p.Asp1231Ala
XM_011544639.1:c.3611A>C	XP_011542941.1:p.Asp1204Ala
XM_011544640.1:c.2093A>C	XP_011542942.1:p.Asp698Ala
XR_949470.1:n.3965A>C
XR_949471.1:n.3965A>C
XR_949472.1:n.3965A>C
XR_949643.1:n.457-5963T>G
XR_949644.1:n.381-5963T>G
XR_949647.1:n.1070-5963T>G
XR_949648.1:n.972-5963T>G
NM_000553.5:c.3692A>C	NP_000544.2:p.Asp1231Ala
XM_011544639.3:c.3611A>C	XP_011542941.1:p.Asp1204Ala
XM_024447265.1:c.3482A>C	XP_024303033.1:p.Asp1161Ala
XR_949470.3:n.3993A>C
XR_949471.3:n.3993A>C
XR_949472.3:n.3993A>C
NM_000553.6:c.3692A>C MANE Select	NP_000544.2:p.Asp1231Ala