Canonical Allele Identifier: CA6779413

Gene: MVK

Linked Data

• ClinVar Variation Id: 2137423
• ClinVar RCV Id: RCV003062543
• dbSNP Id: rs775702104
• ExAC: 12:110032840 T / C
• gnomAD v4: 12-109595035-T-C
• MyVariant Identifiers: chr12:g.110032840T>C (hg19) ; chr12:g.109595035T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595035T>C , CM000674.2:g.109595035T>C	GRCh38
NC_000012.11:g.110032840T>C , CM000674.1:g.110032840T>C	GRCh37
NC_000012.10:g.108517223T>C	NCBI36
NG_007702.1:g.26341T>C , LRG_156:g.26341T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.50T>C	ENSP00000439134.1:p.Ile17Thr
ENST00000546277.6:c.893T>C	ENSP00000438153.2:p.Ile298Thr
ENST00000636529.2:n.532T>C
ENST00000697195.1:c.*657T>C	ENSP00000513181.1:n.*657T>C
ENST00000697196.1:c.*66T>C	ENSP00000513182.1:n.*66T>C
ENST00000697197.1:n.2922T>C
ENST00000697198.1:n.1277T>C
ENST00000228510.8:c.893T>C MANE Select	ENSP00000228510.3:p.Ile298Thr
ENST00000636529.1:c.518T>C
ENST00000636996.1:c.741T>C
ENST00000228510.7:c.893T>C	ENSP00000228510.3:p.Ile298Thr
ENST00000392727.7:c.737T>C	ENSP00000376487.3:p.Ile246Thr
ENST00000447878.6:c.*340T>C	ENSP00000415555.2:n.*340T>C
ENST00000537237.5:c.*566T>C	ENSP00000445382.1:n.*566T>C
ENST00000539575.4:c.893T>C	ENSP00000443551.2:p.Ile298Thr
ENST00000539696.5:c.50T>C	ENSP00000439134.1:p.Ile17Thr
ENST00000540353.1:n.3126T>C
ENST00000625889.2:c.737T>C	ENSP00000486846.1:p.Ile246Thr
ENST00000629016.2:c.*340T>C	ENSP00000486804.1:n.*340T>C
NM_000431.3:c.893T>C	NP_000422.1:p.Ile298Thr
NM_001114185.2:c.893T>C	NP_001107657.1:p.Ile298Thr
NM_001301182.1:c.737T>C	NP_001288111.1:p.Ile246Thr
XM_011538372.1:c.893T>C	XP_011536674.1:p.Ile298Thr
XM_017019313.2:c.737T>C	XP_016874802.1:p.Ile246Thr
XM_017019314.1:c.893T>C	XP_016874803.1:p.Ile298Thr
NM_000431.4:c.893T>C MANE Select	NP_000422.1:p.Ile298Thr
NM_001114185.3:c.893T>C	NP_001107657.1:p.Ile298Thr
NM_001301182.2:c.737T>C	NP_001288111.1:p.Ile246Thr