Canonical Allele Identifier: CA386649080

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110028634C>G (hg19) ; chr12:g.109590829C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109590829C>G , CM000674.2:g.109590829C>G	GRCh38
NC_000012.11:g.110028634C>G , CM000674.1:g.110028634C>G	GRCh37
NC_000012.10:g.108513017C>G	NCBI36
NG_007702.1:g.22135C>G , LRG_156:g.22135C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-17C>G	ENSP00000439134.1:n.-91-17C>G
ENST00000546277.6:c.736C>G	ENSP00000438153.2:p.Leu246Val
ENST00000636529.2:n.375C>G
ENST00000697195.1:c.*500C>G	ENSP00000513181.1:n.*500C>G
ENST00000697196.1:c.824C>G	ENSP00000513182.1:p.Pro275Arg
ENST00000697197.1:n.2386C>G
ENST00000228510.8:c.736C>G MANE Select	ENSP00000228510.3:p.Leu246Val
ENST00000636529.1:c.361C>G
ENST00000636996.1:c.584C>G
ENST00000228510.7:c.736C>G	ENSP00000228510.3:p.Leu246Val
ENST00000392727.7:c.580C>G	ENSP00000376487.3:p.Leu194Val
ENST00000447878.6:c.*183C>G	ENSP00000415555.2:n.*183C>G
ENST00000537237.5:c.*442-412C>G	ENSP00000445382.1:n.*442-412C>G
ENST00000539575.4:c.736C>G	ENSP00000443551.2:p.Leu246Val
ENST00000539696.5:c.-91-17C>G	ENSP00000439134.1:n.-91-17C>G
ENST00000540353.1:n.2969C>G
ENST00000625889.2:c.580C>G	ENSP00000486846.1:p.Leu194Val
ENST00000629016.2:c.*183C>G	ENSP00000486804.1:n.*183C>G
NM_000431.3:c.736C>G	NP_000422.1:p.Leu246Val
NM_001114185.2:c.736C>G	NP_001107657.1:p.Leu246Val
NM_001301182.1:c.580C>G	NP_001288111.1:p.Leu194Val
XM_011538372.1:c.736C>G	XP_011536674.1:p.Leu246Val
XM_017019313.2:c.580C>G	XP_016874802.1:p.Leu194Val
XM_017019314.1:c.736C>G	XP_016874803.1:p.Leu246Val
XM_024448982.1:c.736C>G	XP_024304750.1:p.Leu246Val
NM_000431.4:c.736C>G MANE Select	NP_000422.1:p.Leu246Val
NM_001114185.3:c.736C>G	NP_001107657.1:p.Leu246Val
NM_001301182.2:c.580C>G	NP_001288111.1:p.Leu194Val