Canonical Allele Identifier: CA6779345

Gene: MVK

Linked Data

• ClinVar Variation Id: 1405870
• ClinVar RCV Id: RCV001906746
• dbSNP Id: rs201360189
• ExAC: 12:110028578 C / T
• gnomAD v2: 12-110028578-C-T
• gnomAD v3: 12-109590773-C-T
• gnomAD v4: 12-109590773-C-T
• COSMIC: COSM6280777
• MyVariant Identifiers: chr12:g.110028578C>T (hg19) ; chr12:g.109590773C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109590773C>T , CM000674.2:g.109590773C>T	GRCh38
NC_000012.11:g.110028578C>T , CM000674.1:g.110028578C>T	GRCh37
NC_000012.10:g.108512961C>T	NCBI36
NG_007702.1:g.22079C>T , LRG_156:g.22079C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-73C>T	ENSP00000439134.1:n.-91-73C>T
ENST00000546277.6:c.680C>T	ENSP00000438153.2:p.Ser227Leu
ENST00000636529.2:n.319C>T
ENST00000697195.1:c.*444C>T	ENSP00000513181.1:n.*444C>T
ENST00000697196.1:c.768C>T	ENSP00000513182.1:p.Val256=
ENST00000697197.1:n.2330C>T
ENST00000228510.8:c.680C>T MANE Select	ENSP00000228510.3:p.Ser227Leu
ENST00000636529.1:c.305C>T
ENST00000636996.1:c.528C>T
ENST00000228510.7:c.680C>T	ENSP00000228510.3:p.Ser227Leu
ENST00000392727.7:c.524C>T	ENSP00000376487.3:p.Ser175Leu
ENST00000447878.6:c.*127C>T	ENSP00000415555.2:n.*127C>T
ENST00000537237.5:c.*442-468C>T	ENSP00000445382.1:n.*442-468C>T
ENST00000539575.4:c.680C>T	ENSP00000443551.2:p.Ser227Leu
ENST00000539696.5:c.-91-73C>T	ENSP00000439134.1:n.-91-73C>T
ENST00000540353.1:n.2913C>T
ENST00000625889.2:c.524C>T	ENSP00000486846.1:p.Ser175Leu
ENST00000629016.2:c.*127C>T	ENSP00000486804.1:n.*127C>T
NM_000431.3:c.680C>T	NP_000422.1:p.Ser227Leu
NM_001114185.2:c.680C>T	NP_001107657.1:p.Ser227Leu
NM_001301182.1:c.524C>T	NP_001288111.1:p.Ser175Leu
XM_011538372.1:c.680C>T	XP_011536674.1:p.Ser227Leu
XM_017019313.2:c.524C>T	XP_016874802.1:p.Ser175Leu
XM_017019314.1:c.680C>T	XP_016874803.1:p.Ser227Leu
XM_024448982.1:c.680C>T	XP_024304750.1:p.Ser227Leu
NM_000431.4:c.680C>T MANE Select	NP_000422.1:p.Ser227Leu
NM_001114185.3:c.680C>T	NP_001107657.1:p.Ser227Leu
NM_001301182.2:c.524C>T	NP_001288111.1:p.Ser175Leu