Canonical Allele Identifier: CA395729969
Gene: VKORC1 HGNC NCBI

Linked Data

dbSNP Id: rs2057288266

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31091310T>A , CM000678.2:g.31091310T>A GRCh38
NC_000016.9:g.31102631T>A , CM000678.1:g.31102631T>A GRCh37
NC_000016.8:g.31010132T>A NCBI36
NG_011564.1:g.8646A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394975.3:c.316A>T MANE Select ENSP00000378426.2:p.Met106Leu
ENST00000300851.10:c.377A>T ENSP00000300851.6:p.Asp126Val
ENST00000319788.11:c.398A>T ENSP00000326135.7:p.Asp133Val
ENST00000354895.4:c.206A>T ENSP00000346969.4:p.Asp69Val
ENST00000394971.7:c.410A>T ENSP00000378422.3:p.Asp137Val
ENST00000394975.2:c.316A>T ENSP00000378426.2:p.Met106Leu
ENST00000420057.2:c.278A>T
ENST00000472468.1:c.1A>T ENSP00000458994.1:p.Met1Leu
ENST00000498155.1:c.413A>T ENSP00000417662.1:p.Asp138Val
ENST00000529564.1:c.283+2002A>T ENSP00000431371.1:n.283+2002A>T
ENST00000532364.1:c.173+3247A>T ENSP00000460316.1:n.173+3247A>T
ENST00000533518.5:c.189A>T
NM_001311311.1:c.400A>T NP_001298240.1:p.Met134Leu
NM_024006.4:c.316A>T NP_076869.1:p.Met106Leu
NM_024006.5:c.316A>T NP_076869.1:p.Met106Leu
NM_206824.1:c.206A>T NP_996560.1:p.Asp69Val
NM_206824.2:c.206A>T NP_996560.1:p.Asp69Val
XM_011545944.1:c.316A>T XP_011544246.1:p.Met106Leu
XM_011545945.1:c.206A>T XP_011544247.1:p.Asp69Val
XR_950848.1:n.1104A>T
NM_024006.6:c.316A>T MANE Select NP_076869.1:p.Met106Leu
NM_001311311.2:c.400A>T NP_001298240.1:p.Met134Leu
NM_206824.3:c.206A>T NP_996560.1:p.Asp69Val