Canonical Allele Identifier: CA373283571
Community Standard Title: NM_007126.5(VCP):c.1106T>C (p.Ile369Thr)
Gene: VCP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35061665A>G , CM000671.2:g.35061665A>G GRCh38
NC_000009.11:g.35061662A>G , CM000671.1:g.35061662A>G GRCh37
NC_000009.10:g.35051662A>G NCBI36
NG_007887.1:g.16078T>C , LRG_657:g.16078T>C

Transcript Alleles

HGVS Amino-acid Change
NM_007126.5:c.1106T>C MANE Select NP_009057.1:p.Ile369Thr
ENST00000358901.11:c.1106T>C MANE Select ENSP00000351777.6:p.Ile369Thr
NM_001354927.1:c.971T>C NP_001341856.1:p.Ile324Thr
NM_001354927.2:c.971T>C NP_001341856.1:p.Ile324Thr
NM_001354928.1:c.971T>C NP_001341857.1:p.Ile324Thr
NM_001354928.2:c.971T>C NP_001341857.1:p.Ile324Thr
NM_007126.3:c.1106T>C , LRG_657t1:c.1106T>C NP_009057.1:p.Ile369Thr
NM_007126.4:c.1106T>C NP_009057.1:p.Ile369Thr
ENST00000358901.10:c.1106T>C ENSP00000351777.6:p.Ile369Thr
ENST00000417448.2:c.971T>C ENSP00000399456.2:p.Ile324Thr
ENST00000448530.6:c.971T>C ENSP00000392088.2:p.Ile324Thr
ENST00000480327.2:n.1244T>C
ENST00000493886.5:n.1380T>C
ENST00000676836.2:n.1452T>C
ENST00000677257.1:c.1100T>C ENSP00000504354.1:p.Ile367Thr
ENST00000678018.1:c.*1077T>C ENSP00000503811.1:n.*1077T>C
ENST00000678465.1:c.*118T>C ENSP00000504259.1:n.*118T>C
ENST00000678650.1:c.971T>C ENSP00000503426.1:p.Ile324Thr
ENST00000679204.2:c.1106T>C ENSP00000503131.2:p.Ile369Thr
ENST00000679599.1:n.1376T>C
ENST00000679647.1:c.1106T>C ENSP00000506216.1:p.Ile369Thr
ENST00000679800.1:n.1505T>C
ENST00000679862.1:c.971T>C ENSP00000504990.1:p.Ile324Thr
ENST00000679902.1:c.1106T>C ENSP00000506338.1:p.Ile369Thr
ENST00000680834.1:c.456T>C
ENST00000680916.1:c.1106T>C ENSP00000505769.1:p.Ile369Thr
ENST00000681125.1:c.188T>C
ENST00000681335.1:c.1106T>C ENSP00000505230.1:p.Ile369Thr
ENST00000681690.1:n.1378T>C