Canonical Allele Identifier: CA370925191
Community Standard Title: NM_000553.6(WRN):c.3394C>T (p.Gln1132Ter)
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31147063C>T , CM000670.2:g.31147063C>T GRCh38
NC_000008.10:g.31004579C>T , CM000670.1:g.31004579C>T GRCh37
NC_000008.9:g.31124121C>T NCBI36
NG_008870.1:g.118802C>T , LRG_524:g.118802C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.3394C>T MANE Select NP_000544.2:p.Gln1132Ter
ENST00000298139.7:c.3394C>T MANE Select ENSP00000298139.5:p.Gln1132Ter
NM_000553.4:c.3394C>T , LRG_524t1:c.3394C>T NP_000544.2:p.Gln1132Ter
NM_000553.5:c.3394C>T NP_000544.2:p.Gln1132Ter
ENST00000298139.5:c.3394C>T ENSP00000298139.5:p.Gln1132Ter
ENST00000521620.5:n.2027C>T
ENST00000650667.1:c.*3008C>T ENSP00000498593.1:n.*3008C>T
XM_011544639.1:c.3313C>T XP_011542941.1:p.Gln1105Ter
XM_011544639.3:c.3313C>T XP_011542941.1:p.Gln1105Ter
XM_011544640.1:c.1795C>T XP_011542942.1:p.Gln599Ter
XM_024447265.1:c.3184C>T XP_024303033.1:p.Gln1062Ter
XR_949470.1:n.3667C>T
XR_949470.3:n.3695C>T
XR_949471.1:n.3667C>T
XR_949471.3:n.3695C>T
XR_949472.1:n.3667C>T
XR_949472.3:n.3695C>T
XR_949643.1:n.614+1445G>A