Canonical Allele Identifier: CA370921030

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30938704G>T (hg19) ; chr8:g.31081188G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31081188G>T , CM000670.2:g.31081188G>T	GRCh38
NC_000008.10:g.30938704G>T , CM000670.1:g.30938704G>T	GRCh37
NC_000008.9:g.31058246G>T	NCBI36
NG_008870.1:g.52927G>T , LRG_524:g.52927G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.1161G>T MANE Select	ENSP00000298139.5:p.Met387Ile
ENST00000650667.1:c.*775G>T	ENSP00000498593.1:n.*775G>T
ENST00000651642.1:c.456G>T	ENSP00000498779.1:p.Met152Ile
ENST00000298139.5:c.1161G>T	ENSP00000298139.5:p.Met387Ile
NM_000553.4:c.1161G>T , LRG_524t1:c.1161G>T	NP_000544.2:p.Met387Ile
XM_011544639.1:c.1161G>T	XP_011542941.1:p.Met387Ile
XR_949470.1:n.1434G>T
XR_949471.1:n.1434G>T
XR_949472.1:n.1434G>T
NM_000553.5:c.1161G>T	NP_000544.2:p.Met387Ile
XM_011544639.3:c.1161G>T	XP_011542941.1:p.Met387Ile
XM_024447265.1:c.951G>T	XP_024303033.1:p.Met317Ile
XR_949470.3:n.1462G>T
XR_949471.3:n.1462G>T
XR_949472.3:n.1462G>T
NM_000553.6:c.1161G>T MANE Select	NP_000544.2:p.Met387Ile