Canonical Allele Identifier: CA386650508

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110032878G>T (hg19) ; chr12:g.109595073G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595073G>T , CM000674.2:g.109595073G>T	GRCh38
NC_000012.11:g.110032878G>T , CM000674.1:g.110032878G>T	GRCh37
NC_000012.10:g.108517261G>T	NCBI36
NG_007702.1:g.26379G>T , LRG_156:g.26379G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.88G>T	ENSP00000439134.1:p.Gly30Cys
ENST00000546277.6:c.931G>T	ENSP00000438153.2:p.Gly311Cys
ENST00000636529.2:n.570G>T
ENST00000697195.1:c.*695G>T	ENSP00000513181.1:n.*695G>T
ENST00000697196.1:c.*104G>T	ENSP00000513182.1:n.*104G>T
ENST00000697197.1:n.2960G>T
ENST00000697198.1:n.1315G>T
ENST00000228510.8:c.931G>T MANE Select	ENSP00000228510.3:p.Gly311Cys
ENST00000636529.1:c.556G>T
ENST00000636996.1:c.779G>T
ENST00000228510.7:c.931G>T	ENSP00000228510.3:p.Gly311Cys
ENST00000392727.7:c.775G>T	ENSP00000376487.3:p.Gly259Cys
ENST00000447878.6:c.*378G>T	ENSP00000415555.2:n.*378G>T
ENST00000537237.5:c.*604G>T	ENSP00000445382.1:n.*604G>T
ENST00000539575.4:c.931G>T	ENSP00000443551.2:p.Gly311Cys
ENST00000539696.5:c.88G>T	ENSP00000439134.1:p.Gly30Cys
ENST00000540353.1:n.3164G>T
ENST00000625889.2:c.775G>T	ENSP00000486846.1:p.Gly259Cys
ENST00000629016.2:c.*378G>T	ENSP00000486804.1:n.*378G>T
NM_000431.3:c.931G>T	NP_000422.1:p.Gly311Cys
NM_001114185.2:c.931G>T	NP_001107657.1:p.Gly311Cys
NM_001301182.1:c.775G>T	NP_001288111.1:p.Gly259Cys
XM_011538372.1:c.931G>T	XP_011536674.1:p.Gly311Cys
XM_017019313.2:c.775G>T	XP_016874802.1:p.Gly259Cys
XM_017019314.1:c.931G>T	XP_016874803.1:p.Gly311Cys
NM_000431.4:c.931G>T MANE Select	NP_000422.1:p.Gly311Cys
NM_001114185.3:c.931G>T	NP_001107657.1:p.Gly311Cys
NM_001301182.2:c.775G>T	NP_001288111.1:p.Gly259Cys