Canonical Allele Identifier: CA5562869

Gene: VCL

Linked Data

• dbSNP Id: rs754279934
• ExAC: 10:75842245 A / C
• gnomAD v2: 10-75842245-A-C
• gnomAD v4: 10-74082487-A-C
• MyVariant Identifiers: chr10:g.75842245A>C (hg19) ; chr10:g.74082487A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74082487A>C , CM000672.2:g.74082487A>C	GRCh38
NC_000010.10:g.75842245A>C , CM000672.1:g.75842245A>C	GRCh37
NC_000010.9:g.75512251A>C	NCBI36
NG_008868.1:g.89374A>C , LRG_383:g.89374A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.817A>C MANE Select	ENSP00000211998.5:p.Ile273Leu
ENST00000211998.8:c.817A>C	ENSP00000211998.4:p.Ile273Leu
ENST00000372755.7:c.817A>C	ENSP00000361841.3:p.Ile273Leu
ENST00000478896.2:n.332-18567A>C
ENST00000623461.3:n.3620A>C
ENST00000624354.3:c.*572A>C	ENSP00000485551.1:n.*572A>C
NM_003373.3:c.817A>C	NP_003364.1:p.Ile273Leu
NM_014000.2:c.817A>C , LRG_383t1:c.817A>C	NP_054706.1:p.Ile273Leu
XM_005270142.1:c.820A>C	XP_005270199.1:p.Ile274Leu
XM_005270143.1:c.820A>C	XP_005270200.1:p.Ile274Leu
XR_001747501.1:n.90-4760T>G
NM_003373.4:c.817A>C	NP_003364.1:p.Ile273Leu
NM_014000.3:c.817A>C MANE Select	NP_054706.1:p.Ile273Leu