Canonical Allele Identifier: CA481715444

Gene: MVK

Linked Data

• ClinVar Variation Id: 2940966
• ClinVar RCV Id: RCV003792228
• MyVariant Identifiers: chr12:g.110034262G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596457G>A , CM000674.2:g.109596457G>A	GRCh38
NC_000012.11:g.110034262G>A , CM000674.1:g.110034262G>A	GRCh37
NC_000012.10:g.108518645G>A	NCBI36
NG_007702.1:g.27763G>A , LRG_156:g.27763G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.228G>A	ENSP00000439134.1:p.Lys76=
ENST00000546277.6:c.1071G>A	ENSP00000438153.2:p.Lys357=
ENST00000636529.2:n.710G>A
ENST00000697195.1:c.*835G>A	ENSP00000513181.1:n.*835G>A
ENST00000697196.1:c.*244G>A	ENSP00000513182.1:n.*244G>A
ENST00000697197.1:n.3100G>A
ENST00000697198.1:n.1455G>A
ENST00000228510.8:c.1071G>A MANE Select	ENSP00000228510.3:p.Lys357=
ENST00000636529.1:c.696G>A
ENST00000636996.1:c.919G>A
ENST00000228510.7:c.1071G>A	ENSP00000228510.3:p.Lys357=
ENST00000392727.7:c.915G>A	ENSP00000376487.3:p.Lys305=
ENST00000447878.6:c.*518G>A	ENSP00000415555.2:n.*518G>A
ENST00000537237.5:c.*744G>A	ENSP00000445382.1:n.*744G>A
ENST00000539575.4:c.1071G>A	ENSP00000443551.2:p.Lys357=
ENST00000539696.5:c.228G>A	ENSP00000439134.1:p.Lys76=
ENST00000540353.1:n.3304G>A
ENST00000625889.2:c.915G>A	ENSP00000486846.1:p.Lys305=
ENST00000629016.2:c.*518G>A	ENSP00000486804.1:n.*518G>A
NM_000431.3:c.1071G>A	NP_000422.1:p.Lys357=
NM_001114185.2:c.1071G>A	NP_001107657.1:p.Lys357=
NM_001301182.1:c.915G>A	NP_001288111.1:p.Lys305=
XM_011538372.1:c.1071G>A	XP_011536674.1:p.Lys357=
XM_017019313.2:c.915G>A	XP_016874802.1:p.Lys305=
XM_017019314.1:c.1071G>A	XP_016874803.1:p.Lys357=
NM_000431.4:c.1071G>A MANE Select	NP_000422.1:p.Lys357=
NM_001114185.3:c.1071G>A	NP_001107657.1:p.Lys357=
NM_001301182.2:c.915G>A	NP_001288111.1:p.Lys305=