Canonical Allele Identifier: CA395729318

Gene: VKORC1

Linked Data

• MyVariant Identifiers: chr16:g.31102504A>C (hg19) ; chr16:g.31091183A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31091183A>C , CM000678.2:g.31091183A>C	GRCh38
NC_000016.9:g.31102504A>C , CM000678.1:g.31102504A>C	GRCh37
NC_000016.8:g.31010005A>C	NCBI36
NG_011564.1:g.8773T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394975.3:c.443T>G MANE Select	ENSP00000378426.2:p.Leu148Arg
ENST00000300851.10:c.*54T>G	ENSP00000300851.6:n.*54T>G
ENST00000319788.11:c.*54T>G	ENSP00000326135.7:n.*54T>G
ENST00000354895.4:c.*54T>G	ENSP00000346969.4:n.*54T>G
ENST00000394971.7:c.*54T>G	ENSP00000378422.3:n.*54T>G
ENST00000394975.2:c.443T>G	ENSP00000378426.2:p.Leu148Arg
ENST00000420057.2:c.405T>G
ENST00000472468.1:c.128T>G	ENSP00000458994.1:p.Leu43Arg
ENST00000498155.1:c.*54T>G	ENSP00000417662.1:n.*54T>G
ENST00000529564.1:c.283+2129T>G	ENSP00000431371.1:n.283+2129T>G
ENST00000532364.1:c.173+3374T>G	ENSP00000460316.1:n.173+3374T>G
ENST00000533518.5:c.316T>G
NM_001311311.1:c.527T>G	NP_001298240.1:p.Leu176Arg
NM_024006.4:c.443T>G	NP_076869.1:p.Leu148Arg
NM_024006.5:c.443T>G	NP_076869.1:p.Leu148Arg
NM_206824.1:c.*54T>G	NP_996560.1:n.*54T>G
NM_206824.2:c.*54T>G	NP_996560.1:n.*54T>G
XM_011545944.1:c.443T>G	XP_011544246.1:p.Leu148Arg
XM_011545945.1:c.*54T>G	XP_011544247.1:n.*54T>G
XR_950848.1:n.1231T>G
NM_024006.6:c.443T>G MANE Select	NP_076869.1:p.Leu148Arg
NM_001311311.2:c.527T>G	NP_001298240.1:p.Leu176Arg
NM_206824.3:c.*54T>G	NP_996560.1:n.*54T>G