Canonical Allele Identifier: CA395729993
Gene: VKORC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31091314G>T , CM000678.2:g.31091314G>T GRCh38
NC_000016.9:g.31102635G>T , CM000678.1:g.31102635G>T GRCh37
NC_000016.8:g.31010136G>T NCBI36
NG_011564.1:g.8642C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394975.3:c.312C>A MANE Select ENSP00000378426.2:p.Val104=
ENST00000300851.10:c.373C>A ENSP00000300851.6:p.Pro125Thr
ENST00000319788.11:c.394C>A ENSP00000326135.7:p.Pro132Thr
ENST00000354895.4:c.202C>A ENSP00000346969.4:p.Pro68Thr
ENST00000394971.7:c.406C>A ENSP00000378422.3:p.Pro136Thr
ENST00000394975.2:c.312C>A ENSP00000378426.2:p.Val104=
ENST00000420057.2:c.274C>A
ENST00000472468.1:c.-4C>A ENSP00000458994.1:n.-4C>A
ENST00000498155.1:c.409C>A ENSP00000417662.1:p.Pro137Thr
ENST00000529564.1:c.283+1998C>A ENSP00000431371.1:n.283+1998C>A
ENST00000532364.1:c.173+3243C>A ENSP00000460316.1:n.173+3243C>A
ENST00000533518.5:c.185C>A
NM_001311311.1:c.396C>A NP_001298240.1:p.Val132=
NM_024006.4:c.312C>A NP_076869.1:p.Val104=
NM_024006.5:c.312C>A NP_076869.1:p.Val104=
NM_206824.1:c.202C>A NP_996560.1:p.Pro68Thr
NM_206824.2:c.202C>A NP_996560.1:p.Pro68Thr
XM_011545944.1:c.312C>A XP_011544246.1:p.Val104=
XM_011545945.1:c.202C>A XP_011544247.1:p.Pro68Thr
XR_950848.1:n.1100C>A
NM_024006.6:c.312C>A MANE Select NP_076869.1:p.Val104=
NM_001311311.2:c.396C>A NP_001298240.1:p.Val132=
NM_206824.3:c.202C>A NP_996560.1:p.Pro68Thr