Canonical Allele Identifier: CA370910164
Community Standard Title: NM_000553.6(WRN):c.4191+1G>A
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31167231G>A , CM000670.2:g.31167231G>A GRCh38
NC_000008.10:g.31024747G>A , CM000670.1:g.31024747G>A GRCh37
NC_000008.9:g.31144289G>A NCBI36
NG_008870.1:g.138970G>A , LRG_524:g.138970G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.4191+1G>A MANE Select NP_000544.2:n.4191+1G>A
ENST00000298139.7:c.4191+1G>A MANE Select ENSP00000298139.5:n.4191+1G>A
NM_000553.4:c.4191+1G>A , LRG_524t1:c.4191+1G>A NP_000544.2:n.4191+1G>A
NM_000553.5:c.4191+1G>A NP_000544.2:n.4191+1G>A
ENST00000298139.5:c.4191+1G>A ENSP00000298139.5:n.4191+1G>A
ENST00000521620.5:n.2824+1G>A
ENST00000650667.1:c.*3805+1G>A ENSP00000498593.1:n.*3805+1G>A
ENST00000651946.1:n.415+1G>A
XM_011544639.1:c.4110+1G>A XP_011542941.1:n.4110+1G>A
XM_011544639.3:c.4110+1G>A XP_011542941.1:n.4110+1G>A
XM_011544640.1:c.2592+1G>A XP_011542942.1:n.2592+1G>A
XM_024447265.1:c.3981+1G>A XP_024303033.1:n.3981+1G>A
XR_949643.1:n.266-39C>T
XR_949644.1:n.266-39C>T
XR_949645.1:n.266-39C>T
XR_949646.1:n.266-39C>T
XR_949647.1:n.879-39C>T
XR_949648.1:n.781-39C>T