Canonical Allele Identifier: CA373286752
Community Standard Title: NM_007126.5(VCP):c.648A>G (p.Ile216Met)
Gene: VCP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35064214T>C , CM000671.2:g.35064214T>C GRCh38
NC_000009.11:g.35064211T>C , CM000671.1:g.35064211T>C GRCh37
NC_000009.10:g.35054211T>C NCBI36
NG_007887.1:g.13529A>G , LRG_657:g.13529A>G

Transcript Alleles

HGVS Amino-acid Change
NM_007126.5:c.648A>G MANE Select NP_009057.1:p.Ile216Met
ENST00000358901.11:c.648A>G MANE Select ENSP00000351777.6:p.Ile216Met
NM_001354927.1:c.513A>G NP_001341856.1:p.Ile171Met
NM_001354927.2:c.513A>G NP_001341856.1:p.Ile171Met
NM_001354928.1:c.513A>G NP_001341857.1:p.Ile171Met
NM_001354928.2:c.513A>G NP_001341857.1:p.Ile171Met
NM_007126.3:c.648A>G , LRG_657t1:c.648A>G NP_009057.1:p.Ile216Met
NM_007126.4:c.648A>G NP_009057.1:p.Ile216Met
ENST00000358901.10:c.648A>G ENSP00000351777.6:p.Ile216Met
ENST00000417448.2:c.513A>G ENSP00000399456.2:p.Ile171Met
ENST00000448530.6:c.513A>G ENSP00000392088.2:p.Ile171Met
ENST00000480327.2:n.920A>G
ENST00000493886.5:n.844A>G
ENST00000676836.2:n.994A>G
ENST00000677257.1:c.642A>G ENSP00000504354.1:p.Ile214Met
ENST00000678018.1:c.*619A>G ENSP00000503811.1:n.*619A>G
ENST00000678465.1:c.648A>G ENSP00000504259.1:p.Ile216Met
ENST00000678650.1:c.513A>G ENSP00000503426.1:p.Ile171Met
ENST00000679204.2:c.648A>G ENSP00000503131.2:p.Ile216Met
ENST00000679599.1:n.918A>G
ENST00000679647.1:c.648A>G ENSP00000506216.1:p.Ile216Met
ENST00000679800.1:n.969A>G
ENST00000679862.1:c.513A>G ENSP00000504990.1:p.Ile171Met
ENST00000679902.1:c.648A>G ENSP00000506338.1:p.Ile216Met
ENST00000680520.1:c.300A>G
ENST00000680731.1:c.*136A>G ENSP00000505497.1:n.*136A>G
ENST00000680834.1:c.58+1037A>G
ENST00000680916.1:c.648A>G ENSP00000505769.1:p.Ile216Met
ENST00000681335.1:c.648A>G ENSP00000505230.1:p.Ile216Met
ENST00000681690.1:n.920A>G
ENST00000681789.1:c.201A>G