Canonical Allele Identifier: CA386650817

Gene: MVK

Linked Data

• ClinVar Variation Id: 848443
• ClinVar RCV Id: RCV001052205
• dbSNP Id: rs104895326
• gnomAD v2: 12-110032934-C-G
• gnomAD v4: 12-109595129-C-G
• MyVariant Identifiers: chr12:g.110032934C>G (hg19) ; chr12:g.109595129C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595129C>G , CM000674.2:g.109595129C>G	GRCh38
NC_000012.11:g.110032934C>G , CM000674.1:g.110032934C>G	GRCh37
NC_000012.10:g.108517317C>G	NCBI36
NG_007702.1:g.26435C>G , LRG_156:g.26435C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.144C>G	ENSP00000439134.1:p.Ser48Arg
ENST00000546277.6:c.987C>G	ENSP00000438153.2:p.Ser329Arg
ENST00000636529.2:n.626C>G
ENST00000697195.1:c.*751C>G	ENSP00000513181.1:n.*751C>G
ENST00000697196.1:c.*160C>G	ENSP00000513182.1:n.*160C>G
ENST00000697197.1:n.3016C>G
ENST00000697198.1:n.1371C>G
ENST00000228510.8:c.987C>G MANE Select	ENSP00000228510.3:p.Ser329Arg
ENST00000636529.1:c.612C>G
ENST00000636996.1:c.835C>G
ENST00000228510.7:c.987C>G	ENSP00000228510.3:p.Ser329Arg
ENST00000392727.7:c.831C>G	ENSP00000376487.3:p.Ser277Arg
ENST00000447878.6:c.*434C>G	ENSP00000415555.2:n.*434C>G
ENST00000537237.5:c.*660C>G	ENSP00000445382.1:n.*660C>G
ENST00000539575.4:c.987C>G	ENSP00000443551.2:p.Ser329Arg
ENST00000539696.5:c.144C>G	ENSP00000439134.1:p.Ser48Arg
ENST00000540353.1:n.3220C>G
ENST00000625889.2:c.831C>G	ENSP00000486846.1:p.Ser277Arg
ENST00000629016.2:c.*434C>G	ENSP00000486804.1:n.*434C>G
NM_000431.3:c.987C>G	NP_000422.1:p.Ser329Arg
NM_001114185.2:c.987C>G	NP_001107657.1:p.Ser329Arg
NM_001301182.1:c.831C>G	NP_001288111.1:p.Ser277Arg
XM_011538372.1:c.987C>G	XP_011536674.1:p.Ser329Arg
XM_017019313.2:c.831C>G	XP_016874802.1:p.Ser277Arg
XM_017019314.1:c.987C>G	XP_016874803.1:p.Ser329Arg
NM_000431.4:c.987C>G MANE Select	NP_000422.1:p.Ser329Arg
NM_001114185.3:c.987C>G	NP_001107657.1:p.Ser329Arg
NM_001301182.2:c.831C>G	NP_001288111.1:p.Ser277Arg