Canonical Allele Identifier: CA5039286
Community Standard Title: NM_007126.5(VCP):c.1242G>A (p.Leu414=)
Gene: VCP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35061132C>T , CM000671.2:g.35061132C>T GRCh38
NC_000009.11:g.35061129C>T , CM000671.1:g.35061129C>T GRCh37
NC_000009.10:g.35051129C>T NCBI36
NG_007887.1:g.16611G>A , LRG_657:g.16611G>A

Transcript Alleles

HGVS Amino-acid Change
NM_007126.5:c.1242G>A MANE Select NP_009057.1:p.Leu414=
ENST00000358901.11:c.1242G>A MANE Select ENSP00000351777.6:p.Leu414=
NM_001354927.1:c.1107G>A NP_001341856.1:p.Leu369=
NM_001354927.2:c.1107G>A NP_001341856.1:p.Leu369=
NM_001354928.1:c.1107G>A NP_001341857.1:p.Leu369=
NM_001354928.2:c.1107G>A NP_001341857.1:p.Leu369=
NM_007126.3:c.1242G>A , LRG_657t1:c.1242G>A NP_009057.1:p.Leu414=
NM_007126.4:c.1242G>A NP_009057.1:p.Leu414=
ENST00000358901.10:c.1242G>A ENSP00000351777.6:p.Leu414=
ENST00000417448.2:c.1107G>A ENSP00000399456.2:p.Leu369=
ENST00000448530.6:c.1107G>A ENSP00000392088.2:p.Leu369=
ENST00000480327.1:n.102G>A
ENST00000480327.2:n.1380G>A
ENST00000493886.5:n.1516G>A
ENST00000676836.2:n.1985G>A
ENST00000677257.1:c.1236G>A ENSP00000504354.1:p.Leu412=
ENST00000678018.1:c.*1213G>A ENSP00000503811.1:n.*1213G>A
ENST00000678465.1:c.*254G>A ENSP00000504259.1:n.*254G>A
ENST00000678650.1:c.1107G>A ENSP00000503426.1:p.Leu369=
ENST00000679204.2:c.1242G>A ENSP00000503131.2:p.Leu414=
ENST00000679599.1:n.1512G>A
ENST00000679647.1:c.1242G>A ENSP00000506216.1:p.Leu414=
ENST00000679800.1:n.1641G>A
ENST00000679862.1:c.1107G>A ENSP00000504990.1:p.Leu369=
ENST00000679902.1:c.1242G>A ENSP00000506338.1:p.Leu414=
ENST00000680834.1:c.592G>A
ENST00000680916.1:c.1242G>A ENSP00000505769.1:p.Leu414=
ENST00000681125.1:c.324G>A
ENST00000681335.1:c.1242G>A ENSP00000505230.1:p.Leu414=
ENST00000681690.1:n.1514G>A