Canonical Allele Identifier: CA481714870
Gene: MVK HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.110029063C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109591258C>A , CM000674.2:g.109591258C>A GRCh38
NC_000012.11:g.110029063C>A , CM000674.1:g.110029063C>A GRCh37
NC_000012.10:g.108513446C>A NCBI36
NG_007702.1:g.22564C>A , LRG_156:g.22564C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000539696.6:c.-58C>A ENSP00000439134.1:n.-58C>A
ENST00000546277.6:c.786C>A ENSP00000438153.2:p.Ala262=
ENST00000636529.2:n.425C>A
ENST00000697195.1:c.*550C>A ENSP00000513181.1:n.*550C>A
ENST00000697196.1:c.874C>A ENSP00000513182.1:p.Pro292Thr
ENST00000697197.1:n.2815C>A
ENST00000228510.8:c.786C>A MANE Select ENSP00000228510.3:p.Ala262=
ENST00000636529.1:c.411C>A
ENST00000636996.1:c.634C>A
ENST00000228510.7:c.786C>A ENSP00000228510.3:p.Ala262=
ENST00000392727.7:c.630C>A ENSP00000376487.3:p.Ala210=
ENST00000447878.6:c.*233C>A ENSP00000415555.2:n.*233C>A
ENST00000537237.5:c.*459C>A ENSP00000445382.1:n.*459C>A
ENST00000539575.4:c.786C>A ENSP00000443551.2:p.Ala262=
ENST00000539696.5:c.-58C>A ENSP00000439134.1:n.-58C>A
ENST00000540353.1:n.3019C>A
ENST00000625889.2:c.630C>A ENSP00000486846.1:p.Ala210=
ENST00000629016.2:c.*233C>A ENSP00000486804.1:n.*233C>A
NM_000431.3:c.786C>A NP_000422.1:p.Ala262=
NM_001114185.2:c.786C>A NP_001107657.1:p.Ala262=
NM_001301182.1:c.630C>A NP_001288111.1:p.Ala210=
XM_011538372.1:c.786C>A XP_011536674.1:p.Ala262=
XM_017019313.2:c.630C>A XP_016874802.1:p.Ala210=
XM_017019314.1:c.786C>A XP_016874803.1:p.Ala262=
XM_024448982.1:c.786C>A XP_024304750.1:p.Ala262=
NM_000431.4:c.786C>A MANE Select NP_000422.1:p.Ala262=
NM_001114185.3:c.786C>A NP_001107657.1:p.Ala262=
NM_001301182.2:c.630C>A NP_001288111.1:p.Ala210=