Canonical Allele Identifier: CA386650847

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110032941A>C (hg19) ; chr12:g.109595136A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595136A>C , CM000674.2:g.109595136A>C	GRCh38
NC_000012.11:g.110032941A>C , CM000674.1:g.110032941A>C	GRCh37
NC_000012.10:g.108517324A>C	NCBI36
NG_007702.1:g.26442A>C , LRG_156:g.26442A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.151A>C	ENSP00000439134.1:p.Thr51Pro
ENST00000546277.6:c.994A>C	ENSP00000438153.2:p.Thr332Pro
ENST00000636529.2:n.633A>C
ENST00000697195.1:c.*758A>C	ENSP00000513181.1:n.*758A>C
ENST00000697196.1:c.*167A>C	ENSP00000513182.1:n.*167A>C
ENST00000697197.1:n.3023A>C
ENST00000697198.1:n.1378A>C
ENST00000228510.8:c.994A>C MANE Select	ENSP00000228510.3:p.Thr332Pro
ENST00000636529.1:c.619A>C
ENST00000636996.1:c.842A>C
ENST00000228510.7:c.994A>C	ENSP00000228510.3:p.Thr332Pro
ENST00000392727.7:c.838A>C	ENSP00000376487.3:p.Thr280Pro
ENST00000447878.6:c.*441A>C	ENSP00000415555.2:n.*441A>C
ENST00000537237.5:c.*667A>C	ENSP00000445382.1:n.*667A>C
ENST00000539575.4:c.994A>C	ENSP00000443551.2:p.Thr332Pro
ENST00000539696.5:c.151A>C	ENSP00000439134.1:p.Thr51Pro
ENST00000540353.1:n.3227A>C
ENST00000625889.2:c.838A>C	ENSP00000486846.1:p.Thr280Pro
ENST00000629016.2:c.*441A>C	ENSP00000486804.1:n.*441A>C
NM_000431.3:c.994A>C	NP_000422.1:p.Thr332Pro
NM_001114185.2:c.994A>C	NP_001107657.1:p.Thr332Pro
NM_001301182.1:c.838A>C	NP_001288111.1:p.Thr280Pro
XM_011538372.1:c.994A>C	XP_011536674.1:p.Thr332Pro
XM_017019313.2:c.838A>C	XP_016874802.1:p.Thr280Pro
XM_017019314.1:c.994A>C	XP_016874803.1:p.Thr332Pro
NM_000431.4:c.994A>C MANE Select	NP_000422.1:p.Thr332Pro
NM_001114185.3:c.994A>C	NP_001107657.1:p.Thr332Pro
NM_001301182.2:c.838A>C	NP_001288111.1:p.Thr280Pro