Canonical Allele Identifier: CA460215608
Community Standard Title: NM_000553.6(WRN):c.2166T>C (p.Asn722=)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31111692T>C , CM000670.2:g.31111692T>C GRCh38
NC_000008.10:g.30969208T>C , CM000670.1:g.30969208T>C GRCh37
NC_000008.9:g.31088750T>C NCBI36
NG_008870.1:g.83431T>C , LRG_524:g.83431T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.2166T>C MANE Select NP_000544.2:p.Asn722=
ENST00000298139.7:c.2166T>C MANE Select ENSP00000298139.5:p.Asn722=
NM_000553.4:c.2166T>C , LRG_524t1:c.2166T>C NP_000544.2:p.Asn722=
NM_000553.5:c.2166T>C NP_000544.2:p.Asn722=
ENST00000298139.5:c.2166T>C ENSP00000298139.5:p.Asn722=
ENST00000521620.5:n.799T>C
ENST00000650667.1:c.*1780T>C ENSP00000498593.1:n.*1780T>C
XM_011544639.1:c.2085T>C XP_011542941.1:p.Asn695=
XM_011544639.3:c.2085T>C XP_011542941.1:p.Asn695=
XM_011544640.1:c.567T>C XP_011542942.1:p.Asn189=
XM_024447265.1:c.1956T>C XP_024303033.1:p.Asn652=
XR_949470.1:n.2439T>C
XR_949470.3:n.2467T>C
XR_949471.1:n.2439T>C
XR_949471.3:n.2467T>C
XR_949472.1:n.2439T>C
XR_949472.3:n.2467T>C