Canonical Allele Identifier: CA377272268

Gene: VCL

Linked Data

• MyVariant Identifiers: chr10:g.75848973G>C (hg19) ; chr10:g.74089215G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74089215G>C , CM000672.2:g.74089215G>C	GRCh38
NC_000010.10:g.75848973G>C , CM000672.1:g.75848973G>C	GRCh37
NC_000010.9:g.75518979G>C	NCBI36
NG_008868.1:g.96102G>C , LRG_383:g.96102G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000211998.10:c.1042G>C MANE Select	ENSP00000211998.5:p.Val348Leu
ENST00000211998.8:c.1042G>C	ENSP00000211998.4:p.Val348Leu
ENST00000372755.7:c.1042G>C	ENSP00000361841.3:p.Val348Leu
ENST00000436396.1:c.58G>C	ENSP00000415489.1:p.Val20Leu
ENST00000478896.2:n.332-11839G>C
ENST00000623461.3:n.3845G>C
ENST00000624354.3:c.*797G>C	ENSP00000485551.1:n.*797G>C
NM_003373.3:c.1042G>C	NP_003364.1:p.Val348Leu
NM_014000.2:c.1042G>C , LRG_383t1:c.1042G>C	NP_054706.1:p.Val348Leu
XM_005270142.1:c.1045G>C	XP_005270199.1:p.Val349Leu
XM_005270143.1:c.1045G>C	XP_005270200.1:p.Val349Leu
XR_001747501.1:n.89+717C>G
NM_003373.4:c.1042G>C	NP_003364.1:p.Val348Leu
NM_014000.3:c.1042G>C MANE Select	NP_054706.1:p.Val348Leu