Canonical Allele Identifier: CA217040

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425732C>T , CM000664.2:g.219425732C>T	GRCh38
NC_000002.11:g.220290454C>T , CM000664.1:g.220290454C>T	GRCh37
NC_000002.10:g.219998698C>T	NCBI36
NG_008043.1:g.12356C>T , LRG_380:g.12356C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.832C>T
ENST00000683013.1:n.746C>T
ENST00000373960.4:c.1358C>T MANE Select	ENSP00000363071.3:p.Thr453Ile
ENST00000373960.3:c.1358C>T	ENSP00000363071.3:p.Thr453Ile
ENST00000483395.1:n.213C>T
NM_001927.3:c.1358C>T , LRG_380t1:c.1358C>T	NP_001918.3:p.Thr453Ile
NM_001927.4:c.1358C>T MANE Select	NP_001918.3:p.Thr453Ile
NM_001382708.1:c.1355C>T	NP_001369637.1:p.Thr452Ile
NM_001382709.1:c.926C>T	NP_001369638.1:p.Thr309Ile
NM_001382710.1:c.1289C>T	NP_001369639.1:p.Thr430Ile
NM_001382711.1:c.1337C>T	NP_001369640.1:p.Thr446Ile
NM_001382712.1:c.1358C>T	NP_001369641.1:p.Thr453Ile
NM_001382713.1:c.1088C>T	NP_001369642.1:p.Thr363Ile