Canonical Allele Identifier: CA174861

Gene: VKORC1L1

Linked Data

• ClinVar Variation Id: 161827
• ClinVar RCV Id: RCV000149363
• dbSNP Id: rs193921078
• COSMIC: COSM5521431 ; COSM5521432
• MyVariant Identifiers: chr7:g.65419249G>T (hg19) ; chr7:g.65954262G>T (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65954262G>T , CM000669.2:g.65954262G>T	GRCh38
NC_000007.13:g.65419249G>T , CM000669.1:g.65419249G>T	GRCh37
NC_000007.12:g.65056684G>T	NCBI36
NG_051954.1:g.86164G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360768.5:c.493G>T MANE Select	ENSP00000353998.2:p.Glu165Ter
ENST00000648179.1:c.493G>T	ENSP00000497394.1:p.Glu165Ter
ENST00000648187.1:c.634G>T	ENSP00000497458.1:p.Glu212Ter
ENST00000360768.3:c.493G>T	ENSP00000353998.2:p.Glu165Ter
ENST00000434382.2:c.383G>T	ENSP00000403077.2:p.Arg128Leu
NM_001284342.1:c.383G>T	NP_001271271.1:p.Arg128Leu
NM_173517.4:c.493G>T	NP_775788.2:p.Glu165Ter
XM_011515830.1:c.457G>T	XP_011514132.1:p.Glu153Ter
XM_011515831.1:c.406G>T	XP_011514133.1:p.Glu136Ter
NM_001284342.2:c.383G>T	NP_001271271.1:p.Arg128Leu
NM_173517.5:c.493G>T	NP_775788.2:p.Glu165Ter
XM_011515831.3:c.406G>T	XP_011514133.1:p.Glu136Ter
NM_173517.6:c.493G>T MANE Select	NP_775788.2:p.Glu165Ter
NM_001284342.3:c.383G>T	NP_001271271.1:p.Arg128Leu