Canonical Allele Identifier: CA341808034

Gene: VTCN1

Linked Data

• MyVariant Identifiers: chr1:g.117690293A>C (hg19) ; chr1:g.117147671A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.117147671A>C , CM000663.2:g.117147671A>C	GRCh38
NC_000001.10:g.117690293A>C , CM000663.1:g.117690293A>C	GRCh37
NC_000001.9:g.117491816A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369458.8:c.836T>G MANE Select	ENSP00000358470.3:p.Leu279Arg
ENST00000328189.7:c.488T>G	ENSP00000328168.3:p.Leu163Arg
ENST00000359008.8:c.845T>G	ENSP00000351899.4:p.Leu282Arg
ENST00000369458.7:c.836T>G	ENSP00000358470.3:p.Leu279Arg
ENST00000539893.5:c.551T>G	ENSP00000444724.1:p.Leu184Arg
NM_001253849.1:c.551T>G	NP_001240778.1:p.Leu184Arg
NM_001253850.1:c.488T>G	NP_001240779.1:p.Leu163Arg
NM_024626.3:c.836T>G	NP_078902.2:p.Leu279Arg
NR_045603.1:n.1031T>G
NR_045604.1:n.735T>G
XM_011542143.1:c.887T>G	XP_011540445.1:p.Leu296Arg
XM_011542144.1:c.890T>G	XP_011540446.1:p.Leu297Arg
XM_011542145.1:c.851T>G	XP_011540447.1:p.Leu284Arg
XM_011542143.2:c.986T>G	XP_011540445.2:p.Leu329Arg
XM_017002335.2:c.851T>G	XP_016857824.1:p.Leu284Arg
NM_024626.4:c.836T>G MANE Select	NP_078902.2:p.Leu279Arg
NR_045603.2:n.998T>G
NR_045604.2:n.702T>G
NM_001253849.2:c.551T>G	NP_001240778.1:p.Leu184Arg
NM_001253850.2:c.488T>G	NP_001240779.1:p.Leu163Arg