Canonical Allele Identifier: CA395730100
Gene: VKORC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31091338G>A , CM000678.2:g.31091338G>A GRCh38
NC_000016.9:g.31102659G>A , CM000678.1:g.31102659G>A GRCh37
NC_000016.8:g.31010160G>A NCBI36
NG_011564.1:g.8618C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000394975.3:c.288C>T MANE Select ENSP00000378426.2:p.Cys96=
ENST00000300851.10:c.349C>T ENSP00000300851.6:p.Pro117Ser
ENST00000319788.11:c.370C>T ENSP00000326135.7:p.Pro124Ser
ENST00000354895.4:c.178C>T ENSP00000346969.4:p.Pro60Ser
ENST00000394971.7:c.382C>T ENSP00000378422.3:p.Pro128Ser
ENST00000394975.2:c.288C>T ENSP00000378426.2:p.Cys96=
ENST00000420057.2:c.250C>T
ENST00000472468.1:c.-28C>T ENSP00000458994.1:n.-28C>T
ENST00000498155.1:c.385C>T ENSP00000417662.1:p.Pro129Ser
ENST00000529564.1:c.283+1974C>T ENSP00000431371.1:n.283+1974C>T
ENST00000532364.1:c.173+3219C>T ENSP00000460316.1:n.173+3219C>T
ENST00000533518.5:c.161C>T
NM_001311311.1:c.372C>T NP_001298240.1:p.Cys124=
NM_024006.4:c.288C>T NP_076869.1:p.Cys96=
NM_024006.5:c.288C>T NP_076869.1:p.Cys96=
NM_206824.1:c.178C>T NP_996560.1:p.Pro60Ser
NM_206824.2:c.178C>T NP_996560.1:p.Pro60Ser
XM_011545944.1:c.288C>T XP_011544246.1:p.Cys96=
XM_011545945.1:c.178C>T XP_011544247.1:p.Pro60Ser
XR_950848.1:n.1076C>T
NM_024006.6:c.288C>T MANE Select NP_076869.1:p.Cys96=
NM_001311311.2:c.372C>T NP_001298240.1:p.Cys124=
NM_206824.3:c.178C>T NP_996560.1:p.Pro60Ser