Canonical Allele Identifier: CA386649030

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109590802A>G , CM000674.2:g.109590802A>G	GRCh38
NC_000012.11:g.110028607A>G , CM000674.1:g.110028607A>G	GRCh37
NC_000012.10:g.108512990A>G	NCBI36
NG_007702.1:g.22108A>G , LRG_156:g.22108A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000431.4:c.709A>G MANE Select	NP_000422.1:p.Thr237Ala
ENST00000228510.8:c.709A>G MANE Select	ENSP00000228510.3:p.Thr237Ala
NM_000431.3:c.709A>G	NP_000422.1:p.Thr237Ala
NM_001114185.2:c.709A>G	NP_001107657.1:p.Thr237Ala
NM_001114185.3:c.709A>G	NP_001107657.1:p.Thr237Ala
NM_001301182.1:c.553A>G	NP_001288111.1:p.Thr185Ala
NM_001301182.2:c.553A>G	NP_001288111.1:p.Thr185Ala
ENST00000228510.7:c.709A>G	ENSP00000228510.3:p.Thr237Ala
ENST00000392727.7:c.553A>G	ENSP00000376487.3:p.Thr185Ala
ENST00000447878.6:c.*156A>G	ENSP00000415555.2:n.*156A>G
ENST00000537237.5:c.*442-439A>G	ENSP00000445382.1:n.*442-439A>G
ENST00000539575.4:c.709A>G	ENSP00000443551.2:p.Thr237Ala
ENST00000539696.5:c.-91-44A>G	ENSP00000439134.1:n.-91-44A>G
ENST00000539696.6:c.-91-44A>G	ENSP00000439134.1:n.-91-44A>G
ENST00000540353.1:n.2942A>G
ENST00000546277.6:c.709A>G	ENSP00000438153.2:p.Thr237Ala
ENST00000625889.2:c.553A>G	ENSP00000486846.1:p.Thr185Ala
ENST00000629016.2:c.*156A>G	ENSP00000486804.1:n.*156A>G
ENST00000636529.1:c.334A>G
ENST00000636529.2:n.348A>G
ENST00000636996.1:c.557A>G
ENST00000697195.1:c.*473A>G	ENSP00000513181.1:n.*473A>G
ENST00000697196.1:c.797A>G	ENSP00000513182.1:p.His266Arg
ENST00000697197.1:n.2359A>G
XM_011538372.1:c.709A>G	XP_011536674.1:p.Thr237Ala
XM_017019313.2:c.553A>G	XP_016874802.1:p.Thr185Ala
XM_017019314.1:c.709A>G	XP_016874803.1:p.Thr237Ala
XM_024448982.1:c.709A>G	XP_024304750.1:p.Thr237Ala