Canonical Allele Identifier: CA3156098582
Community Standard Title: NM_000553.6(WRN):c.3493C= (p.Gln1165=)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31147397C= , CM000670.2:g.31147397C= GRCh38
NC_000008.10:g.31004913C= , CM000670.1:g.31004913C= GRCh37
NC_000008.9:g.31124455C= NCBI36
NG_008870.1:g.119136C= , LRG_524:g.119136C=

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.3493C= MANE Select NP_000544.2:p.Gln1165=
ENST00000298139.7:c.3493C= MANE Select ENSP00000298139.5:p.Gln1165=
NM_000553.4:c.3493C= , LRG_524t1:c.3493C= NP_000544.2:p.Gln1165=
NM_000553.5:c.3493C= NP_000544.2:p.Gln1165=
ENST00000298139.5:c.3493C= ENSP00000298139.5:p.Gln1165=
ENST00000521620.5:n.2126C=
ENST00000650667.1:c.*3107C= ENSP00000498593.1:n.*3107C=
XM_011544639.1:c.3412C= XP_011542941.1:p.Gln1138=
XM_011544639.3:c.3412C= XP_011542941.1:p.Gln1138=
XM_011544640.1:c.1894C= XP_011542942.1:p.Gln632=
XM_024447265.1:c.3283C= XP_024303033.1:p.Gln1095=
XR_949470.1:n.3766C=
XR_949470.3:n.3794C=
XR_949471.1:n.3766C=
XR_949471.3:n.3794C=
XR_949472.1:n.3766C=
XR_949472.3:n.3794C=
XR_949643.1:n.614+1111G=