Canonical Allele Identifier: CA1030300

Gene: VTCN1

Linked Data

• dbSNP Id: rs759009169
• ExAC: 1:117690291 T / A
• gnomAD v2: 1-117690291-T-A
• gnomAD v4: 1-117147669-T-A
• MyVariant Identifiers: chr1:g.117690291T>A (hg19) ; chr1:g.117147669T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.117147669T>A , CM000663.2:g.117147669T>A	GRCh38
NC_000001.10:g.117690291T>A , CM000663.1:g.117690291T>A	GRCh37
NC_000001.9:g.117491814T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369458.8:c.838A>T MANE Select	ENSP00000358470.3:p.Met280Leu
ENST00000328189.7:c.490A>T	ENSP00000328168.3:p.Met164Leu
ENST00000359008.8:c.847A>T	ENSP00000351899.4:p.Met283Leu
ENST00000369458.7:c.838A>T	ENSP00000358470.3:p.Met280Leu
ENST00000539893.5:c.553A>T	ENSP00000444724.1:p.Met185Leu
NM_001253849.1:c.553A>T	NP_001240778.1:p.Met185Leu
NM_001253850.1:c.490A>T	NP_001240779.1:p.Met164Leu
NM_024626.3:c.838A>T	NP_078902.2:p.Met280Leu
NR_045603.1:n.1033A>T
NR_045604.1:n.737A>T
XM_011542143.1:c.889A>T	XP_011540445.1:p.Met297Leu
XM_011542144.1:c.892A>T	XP_011540446.1:p.Met298Leu
XM_011542145.1:c.853A>T	XP_011540447.1:p.Met285Leu
XM_011542143.2:c.988A>T	XP_011540445.2:p.Met330Leu
XM_017002335.2:c.853A>T	XP_016857824.1:p.Met285Leu
NM_024626.4:c.838A>T MANE Select	NP_078902.2:p.Met280Leu
NR_045603.2:n.1000A>T
NR_045604.2:n.704A>T
NM_001253849.2:c.553A>T	NP_001240778.1:p.Met185Leu
NM_001253850.2:c.490A>T	NP_001240779.1:p.Met164Leu