Canonical Allele Identifier: CA386651290

Gene: MVK

Linked Data

• ClinVar Variation Id: 1358433
• ClinVar RCV Id: RCV001904164
• dbSNP Id: rs2136257244
• MyVariant Identifiers: chr12:g.110034269C>G (hg19) ; chr12:g.109596464C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596464C>G , CM000674.2:g.109596464C>G	GRCh38
NC_000012.11:g.110034269C>G , CM000674.1:g.110034269C>G	GRCh37
NC_000012.10:g.108518652C>G	NCBI36
NG_007702.1:g.27770C>G , LRG_156:g.27770C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.235C>G	ENSP00000439134.1:p.Leu79Val
ENST00000546277.6:c.1078C>G	ENSP00000438153.2:p.Leu360Val
ENST00000636529.2:n.717C>G
ENST00000697195.1:c.*842C>G	ENSP00000513181.1:n.*842C>G
ENST00000697196.1:c.*251C>G	ENSP00000513182.1:n.*251C>G
ENST00000697197.1:n.3107C>G
ENST00000697198.1:n.1462C>G
ENST00000228510.8:c.1078C>G MANE Select	ENSP00000228510.3:p.Leu360Val
ENST00000636529.1:c.703C>G
ENST00000636996.1:c.926C>G
ENST00000228510.7:c.1078C>G	ENSP00000228510.3:p.Leu360Val
ENST00000392727.7:c.922C>G	ENSP00000376487.3:p.Leu308Val
ENST00000447878.6:c.*525C>G	ENSP00000415555.2:n.*525C>G
ENST00000537237.5:c.*751C>G	ENSP00000445382.1:n.*751C>G
ENST00000539575.4:c.1078C>G	ENSP00000443551.2:p.Leu360Val
ENST00000539696.5:c.235C>G	ENSP00000439134.1:p.Leu79Val
ENST00000540353.1:n.3311C>G
ENST00000625889.2:c.922C>G	ENSP00000486846.1:p.Leu308Val
ENST00000629016.2:c.*525C>G	ENSP00000486804.1:n.*525C>G
NM_000431.3:c.1078C>G	NP_000422.1:p.Leu360Val
NM_001114185.2:c.1078C>G	NP_001107657.1:p.Leu360Val
NM_001301182.1:c.922C>G	NP_001288111.1:p.Leu308Val
XM_011538372.1:c.1078C>G	XP_011536674.1:p.Leu360Val
XM_017019313.2:c.922C>G	XP_016874802.1:p.Leu308Val
XM_017019314.1:c.1078C>G	XP_016874803.1:p.Leu360Val
NM_000431.4:c.1078C>G MANE Select	NP_000422.1:p.Leu360Val
NM_001114185.3:c.1078C>G	NP_001107657.1:p.Leu360Val
NM_001301182.2:c.922C>G	NP_001288111.1:p.Leu308Val