Canonical Allele Identifier: CA395729898
Gene: VKORC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31091295G>T , CM000678.2:g.31091295G>T GRCh38
NC_000016.9:g.31102616G>T , CM000678.1:g.31102616G>T GRCh37
NC_000016.8:g.31010117G>T NCBI36
NG_011564.1:g.8661C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394975.3:c.331C>A MANE Select ENSP00000378426.2:p.Leu111Met
ENST00000300851.10:c.392C>A ENSP00000300851.6:p.Pro131His
ENST00000319788.11:c.413C>A ENSP00000326135.7:p.Pro138His
ENST00000354895.4:c.221C>A ENSP00000346969.4:p.Pro74His
ENST00000394971.7:c.425C>A ENSP00000378422.3:p.Pro142His
ENST00000394975.2:c.331C>A ENSP00000378426.2:p.Leu111Met
ENST00000420057.2:c.293C>A
ENST00000472468.1:c.16C>A ENSP00000458994.1:p.Leu6Met
ENST00000498155.1:c.428C>A ENSP00000417662.1:p.Pro143His
ENST00000529564.1:c.283+2017C>A ENSP00000431371.1:n.283+2017C>A
ENST00000532364.1:c.173+3262C>A ENSP00000460316.1:n.173+3262C>A
ENST00000533518.5:c.204C>A
NM_001311311.1:c.415C>A NP_001298240.1:p.Leu139Met
NM_024006.4:c.331C>A NP_076869.1:p.Leu111Met
NM_024006.5:c.331C>A NP_076869.1:p.Leu111Met
NM_206824.1:c.221C>A NP_996560.1:p.Pro74His
NM_206824.2:c.221C>A NP_996560.1:p.Pro74His
XM_011545944.1:c.331C>A XP_011544246.1:p.Leu111Met
XM_011545945.1:c.221C>A XP_011544247.1:p.Pro74His
XR_950848.1:n.1119C>A
NM_024006.6:c.331C>A MANE Select NP_076869.1:p.Leu111Met
NM_001311311.2:c.415C>A NP_001298240.1:p.Leu139Met
NM_206824.3:c.221C>A NP_996560.1:p.Pro74His