Canonical Allele Identifier: CA377263554

Gene: VCL

Linked Data

• gnomAD v4: 10-74107245-T-G
• MyVariant Identifiers: chr10:g.75867003T>G (hg19) ; chr10:g.74107245T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74107245T>G , CM000672.2:g.74107245T>G	GRCh38
NC_000010.10:g.75867003T>G , CM000672.1:g.75867003T>G	GRCh37
NC_000010.9:g.75537009T>G	NCBI36
NG_008868.1:g.114132T>G , LRG_383:g.114132T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.2450T>G MANE Select	ENSP00000211998.5:p.Phe817Cys
ENST00000211998.8:c.2450T>G	ENSP00000211998.4:p.Phe817Cys
ENST00000372755.7:c.2450T>G	ENSP00000361841.3:p.Phe817Cys
ENST00000436396.1:c.1466T>G	ENSP00000415489.1:p.Phe489Cys
ENST00000472585.1:n.442T>G
ENST00000623461.3:n.5253T>G
ENST00000624354.3:c.*2205T>G	ENSP00000485551.1:n.*2205T>G
NM_003373.3:c.2450T>G	NP_003364.1:p.Phe817Cys
NM_014000.2:c.2450T>G , LRG_383t1:c.2450T>G	NP_054706.1:p.Phe817Cys
XM_005270142.1:c.2453T>G	XP_005270199.1:p.Phe818Cys
XM_005270143.1:c.2453T>G	XP_005270200.1:p.Phe818Cys
NM_003373.4:c.2450T>G	NP_003364.1:p.Phe817Cys
NM_014000.3:c.2450T>G MANE Select	NP_054706.1:p.Phe817Cys