Canonical Allele Identifier: CA341808033

Gene: VTCN1

Linked Data

• MyVariant Identifiers: chr1:g.117690291T>G (hg19) ; chr1:g.117147669T>G (hg38)

Genomic Alleles

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

Transcript Alleles

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