Canonical Allele Identifier: CA395729702
Gene: VKORC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31091254C>G , CM000678.2:g.31091254C>G GRCh38
NC_000016.9:g.31102575C>G , CM000678.1:g.31102575C>G GRCh37
NC_000016.8:g.31010076C>G NCBI36
NG_011564.1:g.8702G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000394975.3:c.372G>C MANE Select ENSP00000378426.2:p.Leu124=
ENST00000300851.10:c.433G>C ENSP00000300851.6:p.Val145Leu
ENST00000319788.11:c.454G>C ENSP00000326135.7:p.Val152Leu
ENST00000354895.4:c.262G>C ENSP00000346969.4:p.Val88Leu
ENST00000394971.7:c.466G>C ENSP00000378422.3:p.Val156Leu
ENST00000394975.2:c.372G>C ENSP00000378426.2:p.Leu124=
ENST00000420057.2:c.334G>C
ENST00000472468.1:c.57G>C ENSP00000458994.1:p.Leu19=
ENST00000498155.1:c.469G>C ENSP00000417662.1:p.Val157Leu
ENST00000529564.1:c.283+2058G>C ENSP00000431371.1:n.283+2058G>C
ENST00000532364.1:c.173+3303G>C ENSP00000460316.1:n.173+3303G>C
ENST00000533518.5:c.245G>C
NM_001311311.1:c.456G>C NP_001298240.1:p.Leu152=
NM_024006.4:c.372G>C NP_076869.1:p.Leu124=
NM_024006.5:c.372G>C NP_076869.1:p.Leu124=
NM_206824.1:c.262G>C NP_996560.1:p.Val88Leu
NM_206824.2:c.262G>C NP_996560.1:p.Val88Leu
XM_011545944.1:c.372G>C XP_011544246.1:p.Leu124=
XM_011545945.1:c.262G>C XP_011544247.1:p.Val88Leu
XR_950848.1:n.1160G>C
NM_024006.6:c.372G>C MANE Select NP_076869.1:p.Leu124=
NM_001311311.2:c.456G>C NP_001298240.1:p.Leu152=
NM_206824.3:c.262G>C NP_996560.1:p.Val88Leu