Canonical Allele Identifier: CA6779422

Gene: MVK

Linked Data

• ClinVar Variation Id: 378187
• ClinVar RCV Id: RCV001402488 ; RCV001712197
• dbSNP Id: rs201216490
• ExAC: 12:110032889 T / A
• gnomAD v2: 12-110032889-T-A
• gnomAD v3: 12-109595084-T-A
• gnomAD v4: 12-109595084-T-A
• MyVariant Identifiers: chr12:g.110032889T>A (hg19) ; chr12:g.109595084T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595084T>A , CM000674.2:g.109595084T>A	GRCh38
NC_000012.11:g.110032889T>A , CM000674.1:g.110032889T>A	GRCh37
NC_000012.10:g.108517272T>A	NCBI36
NG_007702.1:g.26390T>A , LRG_156:g.26390T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.99T>A	ENSP00000439134.1:p.Ser33=
ENST00000546277.6:c.942T>A	ENSP00000438153.2:p.Ser314=
ENST00000636529.2:n.581T>A
ENST00000697195.1:c.*706T>A	ENSP00000513181.1:n.*706T>A
ENST00000697196.1:c.*115T>A	ENSP00000513182.1:n.*115T>A
ENST00000697197.1:n.2971T>A
ENST00000697198.1:n.1326T>A
ENST00000228510.8:c.942T>A MANE Select	ENSP00000228510.3:p.Ser314=
ENST00000636529.1:c.567T>A
ENST00000636996.1:c.790T>A
ENST00000228510.7:c.942T>A	ENSP00000228510.3:p.Ser314=
ENST00000392727.7:c.786T>A	ENSP00000376487.3:p.Ser262=
ENST00000447878.6:c.*389T>A	ENSP00000415555.2:n.*389T>A
ENST00000537237.5:c.*615T>A	ENSP00000445382.1:n.*615T>A
ENST00000539575.4:c.942T>A	ENSP00000443551.2:p.Ser314=
ENST00000539696.5:c.99T>A	ENSP00000439134.1:p.Ser33=
ENST00000540353.1:n.3175T>A
ENST00000625889.2:c.786T>A	ENSP00000486846.1:p.Ser262=
ENST00000629016.2:c.*389T>A	ENSP00000486804.1:n.*389T>A
NM_000431.3:c.942T>A	NP_000422.1:p.Ser314=
NM_001114185.2:c.942T>A	NP_001107657.1:p.Ser314=
NM_001301182.1:c.786T>A	NP_001288111.1:p.Ser262=
XM_011538372.1:c.942T>A	XP_011536674.1:p.Ser314=
XM_017019313.2:c.786T>A	XP_016874802.1:p.Ser262=
XM_017019314.1:c.942T>A	XP_016874803.1:p.Ser314=
NM_000431.4:c.942T>A MANE Select	NP_000422.1:p.Ser314=
NM_001114185.3:c.942T>A	NP_001107657.1:p.Ser314=
NM_001301182.2:c.786T>A	NP_001288111.1:p.Ser262=