Canonical Allele Identifier: CA395729712
Gene: VKORC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31091256G>T , CM000678.2:g.31091256G>T GRCh38
NC_000016.9:g.31102577G>T , CM000678.1:g.31102577G>T GRCh37
NC_000016.8:g.31010078G>T NCBI36
NG_011564.1:g.8700C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000394975.3:c.370C>A MANE Select ENSP00000378426.2:p.Leu124Met
ENST00000300851.10:c.431C>A ENSP00000300851.6:p.Pro144His
ENST00000319788.11:c.452C>A ENSP00000326135.7:p.Pro151His
ENST00000354895.4:c.260C>A ENSP00000346969.4:p.Pro87His
ENST00000394971.7:c.464C>A ENSP00000378422.3:p.Pro155His
ENST00000394975.2:c.370C>A ENSP00000378426.2:p.Leu124Met
ENST00000420057.2:c.332C>A
ENST00000472468.1:c.55C>A ENSP00000458994.1:p.Leu19Met
ENST00000498155.1:c.467C>A ENSP00000417662.1:p.Pro156His
ENST00000529564.1:c.283+2056C>A ENSP00000431371.1:n.283+2056C>A
ENST00000532364.1:c.173+3301C>A ENSP00000460316.1:n.173+3301C>A
ENST00000533518.5:c.243C>A
NM_001311311.1:c.454C>A NP_001298240.1:p.Leu152Met
NM_024006.4:c.370C>A NP_076869.1:p.Leu124Met
NM_024006.5:c.370C>A NP_076869.1:p.Leu124Met
NM_206824.1:c.260C>A NP_996560.1:p.Pro87His
NM_206824.2:c.260C>A NP_996560.1:p.Pro87His
XM_011545944.1:c.370C>A XP_011544246.1:p.Leu124Met
XM_011545945.1:c.260C>A XP_011544247.1:p.Pro87His
XR_950848.1:n.1158C>A
NM_024006.6:c.370C>A MANE Select NP_076869.1:p.Leu124Met
NM_001311311.2:c.454C>A NP_001298240.1:p.Leu152Met
NM_206824.3:c.260C>A NP_996560.1:p.Pro87His