Canonical Allele Identifier: CA395730088
Gene: VKORC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31091335C>G , CM000678.2:g.31091335C>G GRCh38
NC_000016.9:g.31102656C>G , CM000678.1:g.31102656C>G GRCh37
NC_000016.8:g.31010157C>G NCBI36
NG_011564.1:g.8621G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000394975.3:c.291G>C MANE Select ENSP00000378426.2:p.Leu97=
ENST00000300851.10:c.352G>C ENSP00000300851.6:p.Ala118Pro
ENST00000319788.11:c.373G>C ENSP00000326135.7:p.Ala125Pro
ENST00000354895.4:c.181G>C ENSP00000346969.4:p.Ala61Pro
ENST00000394971.7:c.385G>C ENSP00000378422.3:p.Ala129Pro
ENST00000394975.2:c.291G>C ENSP00000378426.2:p.Leu97=
ENST00000420057.2:c.253G>C
ENST00000472468.1:c.-25G>C ENSP00000458994.1:n.-25G>C
ENST00000498155.1:c.388G>C ENSP00000417662.1:p.Ala130Pro
ENST00000529564.1:c.283+1977G>C ENSP00000431371.1:n.283+1977G>C
ENST00000532364.1:c.173+3222G>C ENSP00000460316.1:n.173+3222G>C
ENST00000533518.5:c.164G>C
NM_001311311.1:c.375G>C NP_001298240.1:p.Leu125=
NM_024006.4:c.291G>C NP_076869.1:p.Leu97=
NM_024006.5:c.291G>C NP_076869.1:p.Leu97=
NM_206824.1:c.181G>C NP_996560.1:p.Ala61Pro
NM_206824.2:c.181G>C NP_996560.1:p.Ala61Pro
XM_011545944.1:c.291G>C XP_011544246.1:p.Leu97=
XM_011545945.1:c.181G>C XP_011544247.1:p.Ala61Pro
XR_950848.1:n.1079G>C
NM_024006.6:c.291G>C MANE Select NP_076869.1:p.Leu97=
NM_001311311.2:c.375G>C NP_001298240.1:p.Leu125=
NM_206824.3:c.181G>C NP_996560.1:p.Ala61Pro