Canonical Allele Identifier: CA386650697

Gene: MVK

Linked Data

• gnomAD v4: 12-109595104-T-C
• MyVariant Identifiers: chr12:g.110032909T>C (hg19) ; chr12:g.109595104T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595104T>C , CM000674.2:g.109595104T>C	GRCh38
NC_000012.11:g.110032909T>C , CM000674.1:g.110032909T>C	GRCh37
NC_000012.10:g.108517292T>C	NCBI36
NG_007702.1:g.26410T>C , LRG_156:g.26410T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.119T>C	ENSP00000439134.1:p.Val40Ala
ENST00000546277.6:c.962T>C	ENSP00000438153.2:p.Val321Ala
ENST00000636529.2:n.601T>C
ENST00000697195.1:c.*726T>C	ENSP00000513181.1:n.*726T>C
ENST00000697196.1:c.*135T>C	ENSP00000513182.1:n.*135T>C
ENST00000697197.1:n.2991T>C
ENST00000697198.1:n.1346T>C
ENST00000228510.8:c.962T>C MANE Select	ENSP00000228510.3:p.Val321Ala
ENST00000636529.1:c.587T>C
ENST00000636996.1:c.810T>C
ENST00000228510.7:c.962T>C	ENSP00000228510.3:p.Val321Ala
ENST00000392727.7:c.806T>C	ENSP00000376487.3:p.Val269Ala
ENST00000447878.6:c.*409T>C	ENSP00000415555.2:n.*409T>C
ENST00000537237.5:c.*635T>C	ENSP00000445382.1:n.*635T>C
ENST00000539575.4:c.962T>C	ENSP00000443551.2:p.Val321Ala
ENST00000539696.5:c.119T>C	ENSP00000439134.1:p.Val40Ala
ENST00000540353.1:n.3195T>C
ENST00000625889.2:c.806T>C	ENSP00000486846.1:p.Val269Ala
ENST00000629016.2:c.*409T>C	ENSP00000486804.1:n.*409T>C
NM_000431.3:c.962T>C	NP_000422.1:p.Val321Ala
NM_001114185.2:c.962T>C	NP_001107657.1:p.Val321Ala
NM_001301182.1:c.806T>C	NP_001288111.1:p.Val269Ala
XM_011538372.1:c.962T>C	XP_011536674.1:p.Val321Ala
XM_017019313.2:c.806T>C	XP_016874802.1:p.Val269Ala
XM_017019314.1:c.962T>C	XP_016874803.1:p.Val321Ala
NM_000431.4:c.962T>C MANE Select	NP_000422.1:p.Val321Ala
NM_001114185.3:c.962T>C	NP_001107657.1:p.Val321Ala
NM_001301182.2:c.806T>C	NP_001288111.1:p.Val269Ala