Canonical Allele Identifier: CA16609195
Gene: HUWE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 383795
ClinVar RCV Id: RCV000418062
dbSNP Id: rs1057521730

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53568735C>A , CM000685.2:g.53568735C>A GRCh38
NC_000023.10:g.53595695C>A , CM000685.1:g.53595695C>A GRCh37
NC_000023.9:g.53612420C>A NCBI36
NG_016261.2:g.122999G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000704099.1:c.6661G>T ENSP00000515693.1:p.Val2221Phe
ENST00000262854.11:c.6664G>T MANE Select ENSP00000262854.6:p.Val2222Phe
ENST00000262854.10:c.6664G>T ENSP00000262854.6:p.Val2222Phe
ENST00000342160.7:c.6664G>T ENSP00000340648.3:p.Val2222Phe
ENST00000612484.4:c.6637G>T ENSP00000479451.1:p.Val2213Phe
NM_031407.6:c.6664G>T NP_113584.3:p.Val2222Phe
XM_005261965.2:c.6664G>T XP_005262022.1:p.Val2222Phe
XM_011530746.1:c.6913G>T XP_011529048.1:p.Val2305Phe
XM_011530747.1:c.6913G>T XP_011529049.1:p.Val2305Phe
XM_011530748.1:c.6913G>T XP_011529050.1:p.Val2305Phe
XM_011530749.1:c.6913G>T XP_011529051.1:p.Val2305Phe
XM_011530750.1:c.6913G>T XP_011529052.1:p.Val2305Phe
XM_011530751.1:c.6913G>T XP_011529053.1:p.Val2305Phe
XM_011530752.1:c.6910G>T XP_011529054.1:p.Val2304Phe
XM_011530753.1:c.6913G>T XP_011529055.1:p.Val2305Phe
XM_011530754.1:c.6913G>T XP_011529056.1:p.Val2305Phe
XM_011530755.1:c.6910G>T XP_011529057.1:p.Val2304Phe
XM_011530756.1:c.6913G>T XP_011529058.1:p.Val2305Phe
XM_011530757.1:c.6913G>T XP_011529059.1:p.Val2305Phe
XM_011530758.1:c.6913G>T XP_011529060.1:p.Val2305Phe
XR_938360.1:n.7348G>T
XM_005261965.4:c.6664G>T XP_005262022.1:p.Val2222Phe
XM_011530751.2:c.6913G>T XP_011529053.1:p.Val2305Phe
XM_017029191.1:c.7045G>T XP_016884680.1:p.Val2349Phe
XM_017029192.1:c.7042G>T XP_016884681.1:p.Val2348Phe
XM_017029193.1:c.7024G>T XP_016884682.1:p.Val2342Phe
XM_017029194.1:c.7045G>T XP_016884683.1:p.Val2349Phe
XM_017029195.1:c.7045G>T XP_016884684.1:p.Val2349Phe
XM_017029196.1:c.7042G>T XP_016884685.1:p.Val2348Phe
XM_017029197.1:c.7045G>T XP_016884686.1:p.Val2349Phe
XM_017029198.2:c.6934G>T XP_016884687.1:p.Val2312Phe
XM_017029199.1:c.6934G>T XP_016884688.1:p.Val2312Phe
XM_017029200.1:c.6934G>T XP_016884689.1:p.Val2312Phe
XM_017029201.1:c.6934G>T XP_016884690.1:p.Val2312Phe
XM_017029202.1:c.6934G>T XP_016884691.1:p.Val2312Phe
XM_017029203.1:c.6934G>T XP_016884692.1:p.Val2312Phe
XM_017029204.1:c.6796G>T XP_016884693.1:p.Val2266Phe
XM_017029206.1:c.7045G>T XP_016884695.1:p.Val2349Phe
XM_024452322.1:c.6913G>T XP_024308090.1:p.Val2305Phe
NM_031407.7:c.6664G>T MANE Select NP_113584.3:p.Val2222Phe