Canonical Allele Identifier: CA377266842

Gene: VCL

Linked Data

• MyVariant Identifiers: chr10:g.75830833T>A (hg19) ; chr10:g.74071075T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74071075T>A , CM000672.2:g.74071075T>A	GRCh38
NC_000010.10:g.75830833T>A , CM000672.1:g.75830833T>A	GRCh37
NC_000010.9:g.75500839T>A	NCBI36
NG_008868.1:g.77962T>A , LRG_383:g.77962T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.491T>A MANE Select	ENSP00000211998.5:p.Leu164His
ENST00000211998.8:c.491T>A	ENSP00000211998.4:p.Leu164His
ENST00000372755.7:c.491T>A	ENSP00000361841.3:p.Leu164His
ENST00000478896.2:n.331+27922T>A
ENST00000623461.3:n.449T>A
ENST00000624354.3:c.*246T>A	ENSP00000485551.1:n.*246T>A
NM_003373.3:c.491T>A	NP_003364.1:p.Leu164His
NM_014000.2:c.491T>A , LRG_383t1:c.491T>A	NP_054706.1:p.Leu164His
XM_005270142.1:c.491T>A	XP_005270199.1:p.Leu164His
XM_005270143.1:c.491T>A	XP_005270200.1:p.Leu164His
NM_003373.4:c.491T>A	NP_003364.1:p.Leu164His
NM_014000.3:c.491T>A MANE Select	NP_054706.1:p.Leu164His