Canonical Allele Identifier: CA481714906

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110029108C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591303C>G , CM000674.2:g.109591303C>G	GRCh38
NC_000012.11:g.110029108C>G , CM000674.1:g.110029108C>G	GRCh37
NC_000012.10:g.108513491C>G	NCBI36
NG_007702.1:g.22609C>G , LRG_156:g.22609C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-13C>G	ENSP00000439134.1:n.-13C>G
ENST00000546277.6:c.831C>G	ENSP00000438153.2:p.Arg277=
ENST00000636529.2:n.470C>G
ENST00000697195.1:c.*595C>G	ENSP00000513181.1:n.*595C>G
ENST00000697196.1:c.*4C>G	ENSP00000513182.1:n.*4C>G
ENST00000697197.1:n.2860C>G
ENST00000228510.8:c.831C>G MANE Select	ENSP00000228510.3:p.Arg277=
ENST00000636529.1:c.456C>G
ENST00000636996.1:c.679C>G
ENST00000228510.7:c.831C>G	ENSP00000228510.3:p.Arg277=
ENST00000392727.7:c.675C>G	ENSP00000376487.3:p.Arg225=
ENST00000447878.6:c.*278C>G	ENSP00000415555.2:n.*278C>G
ENST00000537237.5:c.*504C>G	ENSP00000445382.1:n.*504C>G
ENST00000539575.4:c.831C>G	ENSP00000443551.2:p.Arg277=
ENST00000539696.5:c.-13C>G	ENSP00000439134.1:n.-13C>G
ENST00000540353.1:n.3064C>G
ENST00000625889.2:c.675C>G	ENSP00000486846.1:p.Arg225=
ENST00000629016.2:c.*278C>G	ENSP00000486804.1:n.*278C>G
NM_000431.3:c.831C>G	NP_000422.1:p.Arg277=
NM_001114185.2:c.831C>G	NP_001107657.1:p.Arg277=
NM_001301182.1:c.675C>G	NP_001288111.1:p.Arg225=
XM_011538372.1:c.831C>G	XP_011536674.1:p.Arg277=
XM_017019313.2:c.675C>G	XP_016874802.1:p.Arg225=
XM_017019314.1:c.831C>G	XP_016874803.1:p.Arg277=
XM_024448982.1:c.831C>G	XP_024304750.1:p.Arg277=
NM_000431.4:c.831C>G MANE Select	NP_000422.1:p.Arg277=
NM_001114185.3:c.831C>G	NP_001107657.1:p.Arg277=
NM_001301182.2:c.675C>G	NP_001288111.1:p.Arg225=