Canonical Allele Identifier: CA395729642
Gene: VKORC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31091241A>C , CM000678.2:g.31091241A>C GRCh38
NC_000016.9:g.31102562A>C , CM000678.1:g.31102562A>C GRCh37
NC_000016.8:g.31010063A>C NCBI36
NG_011564.1:g.8715T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394975.3:c.385T>G MANE Select ENSP00000378426.2:p.Tyr129Asp
ENST00000300851.10:c.446T>G ENSP00000300851.6:p.Leu149Arg
ENST00000319788.11:c.467T>G ENSP00000326135.7:p.Leu156Arg
ENST00000354895.4:c.275T>G ENSP00000346969.4:p.Leu92Arg
ENST00000394971.7:c.479T>G ENSP00000378422.3:p.Leu160Arg
ENST00000394975.2:c.385T>G ENSP00000378426.2:p.Tyr129Asp
ENST00000420057.2:c.347T>G
ENST00000472468.1:c.70T>G ENSP00000458994.1:p.Tyr24Asp
ENST00000498155.1:c.482T>G ENSP00000417662.1:p.Leu161Arg
ENST00000529564.1:c.283+2071T>G ENSP00000431371.1:n.283+2071T>G
ENST00000532364.1:c.173+3316T>G ENSP00000460316.1:n.173+3316T>G
ENST00000533518.5:c.258T>G
NM_001311311.1:c.469T>G NP_001298240.1:p.Tyr157Asp
NM_024006.4:c.385T>G NP_076869.1:p.Tyr129Asp
NM_024006.5:c.385T>G NP_076869.1:p.Tyr129Asp
NM_206824.1:c.275T>G NP_996560.1:p.Leu92Arg
NM_206824.2:c.275T>G NP_996560.1:p.Leu92Arg
XM_011545944.1:c.385T>G XP_011544246.1:p.Tyr129Asp
XM_011545945.1:c.275T>G XP_011544247.1:p.Leu92Arg
XR_950848.1:n.1173T>G
NM_024006.6:c.385T>G MANE Select NP_076869.1:p.Tyr129Asp
NM_001311311.2:c.469T>G NP_001298240.1:p.Tyr157Asp
NM_206824.3:c.275T>G NP_996560.1:p.Leu92Arg