Canonical Allele Identifier: CA481715272

Gene: MVK

Linked Data

• gnomAD v4: 12-109595105-G-A
• MyVariant Identifiers: chr12:g.110032910G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595105G>A , CM000674.2:g.109595105G>A	GRCh38
NC_000012.11:g.110032910G>A , CM000674.1:g.110032910G>A	GRCh37
NC_000012.10:g.108517293G>A	NCBI36
NG_007702.1:g.26411G>A , LRG_156:g.26411G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.120G>A	ENSP00000439134.1:p.Val40=
ENST00000546277.6:c.963G>A	ENSP00000438153.2:p.Val321=
ENST00000636529.2:n.602G>A
ENST00000697195.1:c.*727G>A	ENSP00000513181.1:n.*727G>A
ENST00000697196.1:c.*136G>A	ENSP00000513182.1:n.*136G>A
ENST00000697197.1:n.2992G>A
ENST00000697198.1:n.1347G>A
ENST00000228510.8:c.963G>A MANE Select	ENSP00000228510.3:p.Val321=
ENST00000636529.1:c.588G>A
ENST00000636996.1:c.811G>A
ENST00000228510.7:c.963G>A	ENSP00000228510.3:p.Val321=
ENST00000392727.7:c.807G>A	ENSP00000376487.3:p.Val269=
ENST00000447878.6:c.*410G>A	ENSP00000415555.2:n.*410G>A
ENST00000537237.5:c.*636G>A	ENSP00000445382.1:n.*636G>A
ENST00000539575.4:c.963G>A	ENSP00000443551.2:p.Val321=
ENST00000539696.5:c.120G>A	ENSP00000439134.1:p.Val40=
ENST00000540353.1:n.3196G>A
ENST00000625889.2:c.807G>A	ENSP00000486846.1:p.Val269=
ENST00000629016.2:c.*410G>A	ENSP00000486804.1:n.*410G>A
NM_000431.3:c.963G>A	NP_000422.1:p.Val321=
NM_001114185.2:c.963G>A	NP_001107657.1:p.Val321=
NM_001301182.1:c.807G>A	NP_001288111.1:p.Val269=
XM_011538372.1:c.963G>A	XP_011536674.1:p.Val321=
XM_017019313.2:c.807G>A	XP_016874802.1:p.Val269=
XM_017019314.1:c.963G>A	XP_016874803.1:p.Val321=
NM_000431.4:c.963G>A MANE Select	NP_000422.1:p.Val321=
NM_001114185.3:c.963G>A	NP_001107657.1:p.Val321=
NM_001301182.2:c.807G>A	NP_001288111.1:p.Val269=