Canonical Allele Identifier: CA395729628
Gene: VKORC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31091238C>A , CM000678.2:g.31091238C>A GRCh38
NC_000016.9:g.31102559C>A , CM000678.1:g.31102559C>A GRCh37
NC_000016.8:g.31010060C>A NCBI36
NG_011564.1:g.8718G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000394975.3:c.388G>T MANE Select ENSP00000378426.2:p.Asp130Tyr
ENST00000300851.10:c.449G>T ENSP00000300851.6:p.Ter150Leu
ENST00000319788.11:c.470G>T ENSP00000326135.7:p.Ter157Leu
ENST00000354895.4:c.278G>T ENSP00000346969.4:p.Ter93Leu
ENST00000394971.7:c.482G>T ENSP00000378422.3:p.Ter161Leu
ENST00000394975.2:c.388G>T ENSP00000378426.2:p.Asp130Tyr
ENST00000420057.2:c.350G>T
ENST00000472468.1:c.73G>T ENSP00000458994.1:p.Asp25Tyr
ENST00000498155.1:c.485G>T ENSP00000417662.1:p.Ter162Leu
ENST00000529564.1:c.283+2074G>T ENSP00000431371.1:n.283+2074G>T
ENST00000532364.1:c.173+3319G>T ENSP00000460316.1:n.173+3319G>T
ENST00000533518.5:c.261G>T
NM_001311311.1:c.472G>T NP_001298240.1:p.Asp158Tyr
NM_024006.4:c.388G>T NP_076869.1:p.Asp130Tyr
NM_024006.5:c.388G>T NP_076869.1:p.Asp130Tyr
NM_206824.1:c.278G>T NP_996560.1:p.Ter93Leu
NM_206824.2:c.278G>T NP_996560.1:p.Ter93Leu
XM_011545944.1:c.388G>T XP_011544246.1:p.Asp130Tyr
XM_011545945.1:c.278G>T XP_011544247.1:p.Ter93Leu
XR_950848.1:n.1176G>T
NM_024006.6:c.388G>T MANE Select NP_076869.1:p.Asp130Tyr
NM_001311311.2:c.472G>T NP_001298240.1:p.Asp158Tyr
NM_206824.3:c.278G>T NP_996560.1:p.Ter93Leu