Canonical Allele Identifier: CA1329211296

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421458T= , CM000664.2:g.219421458T=	GRCh38
NC_000002.11:g.220286180T= , CM000664.1:g.220286180T=	GRCh37
NC_000002.10:g.219994424T=	NCBI36
NG_008043.1:g.8082T= , LRG_380:g.8082T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.616T=
ENST00000683013.1:n.530T=
ENST00000373960.4:c.1142T= MANE Select	ENSP00000363071.3:p.Met381=
ENST00000373960.3:c.1142T=	ENSP00000363071.3:p.Met381=
ENST00000477226.5:n.614T=
ENST00000492726.1:n.537T=
NM_001927.3:c.1142T= , LRG_380t1:c.1142T=	NP_001918.3:p.Met381=
NM_001927.4:c.1142T= MANE Select	NP_001918.3:p.Met381=
NM_001382708.1:c.1139T=	NP_001369637.1:p.Met380=
NM_001382709.1:c.736-26T=	NP_001369638.1:n.736-26T=
NM_001382710.1:c.1073T=	NP_001369639.1:p.Met358=
NM_001382711.1:c.1121T=	NP_001369640.1:p.Met374=
NM_001382712.1:c.1142T=	NP_001369641.1:p.Met381=
NM_001382713.1:c.872T=	NP_001369642.1:p.Met291=