Canonical Allele Identifier: CA149845

Gene: MVK

Linked Data

• ClinVar Variation Id: 97597
• ClinVar RCV Id: RCV000083849 ; RCV000725893 ; RCV002262661 ; RCV001381668
• dbSNP Id: rs104895311
• gnomAD v3: 12-109586058-G-A
• gnomAD v4: 12-109586058-G-A
• MyVariant Identifiers: chr12:g.110023863G>A (hg19) ; chr12:g.109586058G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109586058G>A , CM000674.2:g.109586058G>A	GRCh38
NC_000012.11:g.110023863G>A , CM000674.1:g.110023863G>A	GRCh37
NC_000012.10:g.108508246G>A	NCBI36
NG_007702.1:g.17364G>A , LRG_156:g.17364G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4788G>A	ENSP00000439134.1:n.-91-4788G>A
ENST00000546277.6:c.564G>A	ENSP00000438153.2:p.Trp188Ter
ENST00000636529.2:n.115G>A
ENST00000697195.1:c.*328G>A	ENSP00000513181.1:n.*328G>A
ENST00000697196.1:c.564G>A	ENSP00000513182.1:p.Trp188Ter
ENST00000228510.8:c.564G>A MANE Select	ENSP00000228510.3:p.Trp188Ter
ENST00000636529.1:c.101G>A
ENST00000636996.1:c.412G>A
ENST00000228510.7:c.564G>A	ENSP00000228510.3:p.Trp188Ter
ENST00000392727.7:c.408G>A	ENSP00000376487.3:p.Trp136Ter
ENST00000447878.6:c.*11G>A	ENSP00000415555.2:n.*11G>A
ENST00000535044.1:n.508G>A
ENST00000537237.5:c.*328G>A	ENSP00000445382.1:n.*328G>A
ENST00000539575.4:c.564G>A	ENSP00000443551.2:p.Trp188Ter
ENST00000539696.5:c.-91-4788G>A	ENSP00000439134.1:n.-91-4788G>A
ENST00000545516.1:n.109G>A
ENST00000545774.5:c.*11G>A	ENSP00000443978.1:n.*11G>A
ENST00000546277.5:c.564G>A	ENSP00000438153.1:p.Trp188Ter
ENST00000625889.2:c.408G>A	ENSP00000486846.1:p.Trp136Ter
ENST00000629016.2:c.*11G>A	ENSP00000486804.1:n.*11G>A
NM_000431.3:c.564G>A	NP_000422.1:p.Trp188Ter
NM_001114185.2:c.564G>A	NP_001107657.1:p.Trp188Ter
NM_001301182.1:c.408G>A	NP_001288111.1:p.Trp136Ter
XM_011538372.1:c.564G>A	XP_011536674.1:p.Trp188Ter
XM_017019313.2:c.408G>A	XP_016874802.1:p.Trp136Ter
XM_017019314.1:c.564G>A	XP_016874803.1:p.Trp188Ter
XM_024448982.1:c.564G>A	XP_024304750.1:p.Trp188Ter
NM_000431.4:c.564G>A MANE Select	NP_000422.1:p.Trp188Ter
NM_001114185.3:c.564G>A	NP_001107657.1:p.Trp188Ter
NM_001301182.2:c.408G>A	NP_001288111.1:p.Trp136Ter