Canonical Allele Identifier: CA6779347

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109590783C>G , CM000674.2:g.109590783C>G	GRCh38
NC_000012.11:g.110028588C>G , CM000674.1:g.110028588C>G	GRCh37
NC_000012.10:g.108512971C>G	NCBI36
NG_007702.1:g.22089C>G , LRG_156:g.22089C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000431.4:c.690C>G MANE Select	NP_000422.1:p.Leu230=
ENST00000228510.8:c.690C>G MANE Select	ENSP00000228510.3:p.Leu230=
NM_000431.3:c.690C>G	NP_000422.1:p.Leu230=
NM_001114185.2:c.690C>G	NP_001107657.1:p.Leu230=
NM_001114185.3:c.690C>G	NP_001107657.1:p.Leu230=
NM_001301182.1:c.534C>G	NP_001288111.1:p.Leu178=
NM_001301182.2:c.534C>G	NP_001288111.1:p.Leu178=
ENST00000228510.7:c.690C>G	ENSP00000228510.3:p.Leu230=
ENST00000392727.7:c.534C>G	ENSP00000376487.3:p.Leu178=
ENST00000447878.6:c.*137C>G	ENSP00000415555.2:n.*137C>G
ENST00000537237.5:c.*442-458C>G	ENSP00000445382.1:n.*442-458C>G
ENST00000539575.4:c.690C>G	ENSP00000443551.2:p.Leu230=
ENST00000539696.5:c.-91-63C>G	ENSP00000439134.1:n.-91-63C>G
ENST00000539696.6:c.-91-63C>G	ENSP00000439134.1:n.-91-63C>G
ENST00000540353.1:n.2923C>G
ENST00000546277.6:c.690C>G	ENSP00000438153.2:p.Leu230=
ENST00000625889.2:c.534C>G	ENSP00000486846.1:p.Leu178=
ENST00000629016.2:c.*137C>G	ENSP00000486804.1:n.*137C>G
ENST00000636529.1:c.315C>G
ENST00000636529.2:n.329C>G
ENST00000636996.1:c.538C>G
ENST00000697195.1:c.*454C>G	ENSP00000513181.1:n.*454C>G
ENST00000697196.1:c.778C>G	ENSP00000513182.1:p.Pro260Ala
ENST00000697197.1:n.2340C>G
XM_011538372.1:c.690C>G	XP_011536674.1:p.Leu230=
XM_017019313.2:c.534C>G	XP_016874802.1:p.Leu178=
XM_017019314.1:c.690C>G	XP_016874803.1:p.Leu230=
XM_024448982.1:c.690C>G	XP_024304750.1:p.Leu230=