Canonical Allele Identifier: CA395729655
Gene: VKORC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31091244G>A , CM000678.2:g.31091244G>A GRCh38
NC_000016.9:g.31102565G>A , CM000678.1:g.31102565G>A GRCh37
NC_000016.8:g.31010066G>A NCBI36
NG_011564.1:g.8712C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000394975.3:c.382C>T MANE Select ENSP00000378426.2:p.Leu128Phe
ENST00000300851.10:c.443C>T ENSP00000300851.6:p.Ala148Val
ENST00000319788.11:c.464C>T ENSP00000326135.7:p.Ala155Val
ENST00000354895.4:c.272C>T ENSP00000346969.4:p.Ala91Val
ENST00000394971.7:c.476C>T ENSP00000378422.3:p.Ala159Val
ENST00000394975.2:c.382C>T ENSP00000378426.2:p.Leu128Phe
ENST00000420057.2:c.344C>T
ENST00000472468.1:c.67C>T ENSP00000458994.1:p.Leu23Phe
ENST00000498155.1:c.479C>T ENSP00000417662.1:p.Ala160Val
ENST00000529564.1:c.283+2068C>T ENSP00000431371.1:n.283+2068C>T
ENST00000532364.1:c.173+3313C>T ENSP00000460316.1:n.173+3313C>T
ENST00000533518.5:c.255C>T
NM_001311311.1:c.466C>T NP_001298240.1:p.Leu156Phe
NM_024006.4:c.382C>T NP_076869.1:p.Leu128Phe
NM_024006.5:c.382C>T NP_076869.1:p.Leu128Phe
NM_206824.1:c.272C>T NP_996560.1:p.Ala91Val
NM_206824.2:c.272C>T NP_996560.1:p.Ala91Val
XM_011545944.1:c.382C>T XP_011544246.1:p.Leu128Phe
XM_011545945.1:c.272C>T XP_011544247.1:p.Ala91Val
XR_950848.1:n.1170C>T
NM_024006.6:c.382C>T MANE Select NP_076869.1:p.Leu128Phe
NM_001311311.2:c.466C>T NP_001298240.1:p.Leu156Phe
NM_206824.3:c.272C>T NP_996560.1:p.Ala91Val