Canonical Allele Identifier: CA395729804

Gene: VKORC1

Linked Data

• MyVariant Identifiers: chr16:g.31102598A>T (hg19) ; chr16:g.31091277A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31091277A>T , CM000678.2:g.31091277A>T	GRCh38
NC_000016.9:g.31102598A>T , CM000678.1:g.31102598A>T	GRCh37
NC_000016.8:g.31010099A>T	NCBI36
NG_011564.1:g.8679T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394975.3:c.349T>A MANE Select	ENSP00000378426.2:p.Ser117Thr
ENST00000300851.10:c.410T>A	ENSP00000300851.6:p.Phe137Tyr
ENST00000319788.11:c.431T>A	ENSP00000326135.7:p.Phe144Tyr
ENST00000354895.4:c.239T>A	ENSP00000346969.4:p.Phe80Tyr
ENST00000394971.7:c.443T>A	ENSP00000378422.3:p.Phe148Tyr
ENST00000394975.2:c.349T>A	ENSP00000378426.2:p.Ser117Thr
ENST00000420057.2:c.311T>A
ENST00000472468.1:c.34T>A	ENSP00000458994.1:p.Ser12Thr
ENST00000498155.1:c.446T>A	ENSP00000417662.1:p.Phe149Tyr
ENST00000529564.1:c.283+2035T>A	ENSP00000431371.1:n.283+2035T>A
ENST00000532364.1:c.173+3280T>A	ENSP00000460316.1:n.173+3280T>A
ENST00000533518.5:c.222T>A
NM_001311311.1:c.433T>A	NP_001298240.1:p.Ser145Thr
NM_024006.4:c.349T>A	NP_076869.1:p.Ser117Thr
NM_024006.5:c.349T>A	NP_076869.1:p.Ser117Thr
NM_206824.1:c.239T>A	NP_996560.1:p.Phe80Tyr
NM_206824.2:c.239T>A	NP_996560.1:p.Phe80Tyr
XM_011545944.1:c.349T>A	XP_011544246.1:p.Ser117Thr
XM_011545945.1:c.239T>A	XP_011544247.1:p.Phe80Tyr
XR_950848.1:n.1137T>A
NM_024006.6:c.349T>A MANE Select	NP_076869.1:p.Ser117Thr
NM_001311311.2:c.433T>A	NP_001298240.1:p.Ser145Thr
NM_206824.3:c.239T>A	NP_996560.1:p.Phe80Tyr