Canonical Allele Identifier: CA209695415
Gene: VCL HGNC NCBI

Linked Data

ClinVar Variation Id: 536710
ClinVar RCV Id: RCV000645324
dbSNP Id: rs960017518

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.74107238A>G , CM000672.2:g.74107238A>G GRCh38
NC_000010.10:g.75866996A>G , CM000672.1:g.75866996A>G GRCh37
NC_000010.9:g.75537002A>G NCBI36
NG_008868.1:g.114125A>G , LRG_383:g.114125A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000211998.10:c.2443A>G MANE Select ENSP00000211998.5:p.Lys815Glu
ENST00000211998.8:c.2443A>G ENSP00000211998.4:p.Lys815Glu
ENST00000372755.7:c.2443A>G ENSP00000361841.3:p.Lys815Glu
ENST00000436396.1:c.1459A>G ENSP00000415489.1:p.Lys487Glu
ENST00000472585.1:n.435A>G
ENST00000623461.3:n.5246A>G
ENST00000624354.3:c.*2198A>G ENSP00000485551.1:n.*2198A>G
NM_003373.3:c.2443A>G NP_003364.1:p.Lys815Glu
NM_014000.2:c.2443A>G , LRG_383t1:c.2443A>G NP_054706.1:p.Lys815Glu
XM_005270142.1:c.2446A>G XP_005270199.1:p.Lys816Glu
XM_005270143.1:c.2446A>G XP_005270200.1:p.Lys816Glu
NM_003373.4:c.2443A>G NP_003364.1:p.Lys815Glu
NM_014000.3:c.2443A>G MANE Select NP_054706.1:p.Lys815Glu