Canonical Allele Identifier: CA377264836

Gene: VCL

Linked Data

• gnomAD v4: 10-74112063-T-C
• MyVariant Identifiers: chr10:g.75871821T>C (hg19) ; chr10:g.74112063T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74112063T>C , CM000672.2:g.74112063T>C	GRCh38
NC_000010.10:g.75871821T>C , CM000672.1:g.75871821T>C	GRCh37
NC_000010.9:g.75541827T>C	NCBI36
NG_008868.1:g.118950T>C , LRG_383:g.118950T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.2900T>C MANE Select	ENSP00000211998.5:p.Leu967Pro
ENST00000211998.8:c.2900T>C	ENSP00000211998.4:p.Leu967Pro
ENST00000372755.7:c.2746-2121T>C	ENSP00000361841.3:n.2746-2121T>C
ENST00000436396.1:c.1916T>C	ENSP00000415489.1:p.Leu639Pro
ENST00000623461.3:n.5549-2121T>C
ENST00000624354.3:c.*2655T>C	ENSP00000485551.1:n.*2655T>C
NM_003373.3:c.2746-2121T>C	NP_003364.1:n.2746-2121T>C
NM_014000.2:c.2900T>C , LRG_383t1:c.2900T>C	NP_054706.1:p.Leu967Pro
XM_005270142.1:c.2903T>C	XP_005270199.1:p.Leu968Pro
XM_005270143.1:c.2749-2121T>C	XP_005270200.1:n.2749-2121T>C
NM_003373.4:c.2746-2121T>C	NP_003364.1:n.2746-2121T>C
NM_014000.3:c.2900T>C MANE Select	NP_054706.1:p.Leu967Pro