Canonical Allele Identifier: CA386650796

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110032930A>T (hg19) ; chr12:g.109595125A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595125A>T , CM000674.2:g.109595125A>T	GRCh38
NC_000012.11:g.110032930A>T , CM000674.1:g.110032930A>T	GRCh37
NC_000012.10:g.108517313A>T	NCBI36
NG_007702.1:g.26431A>T , LRG_156:g.26431A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.140A>T	ENSP00000439134.1:p.His47Leu
ENST00000546277.6:c.983A>T	ENSP00000438153.2:p.His328Leu
ENST00000636529.2:n.622A>T
ENST00000697195.1:c.*747A>T	ENSP00000513181.1:n.*747A>T
ENST00000697196.1:c.*156A>T	ENSP00000513182.1:n.*156A>T
ENST00000697197.1:n.3012A>T
ENST00000697198.1:n.1367A>T
ENST00000228510.8:c.983A>T MANE Select	ENSP00000228510.3:p.His328Leu
ENST00000636529.1:c.608A>T
ENST00000636996.1:c.831A>T
ENST00000228510.7:c.983A>T	ENSP00000228510.3:p.His328Leu
ENST00000392727.7:c.827A>T	ENSP00000376487.3:p.His276Leu
ENST00000447878.6:c.*430A>T	ENSP00000415555.2:n.*430A>T
ENST00000537237.5:c.*656A>T	ENSP00000445382.1:n.*656A>T
ENST00000539575.4:c.983A>T	ENSP00000443551.2:p.His328Leu
ENST00000539696.5:c.140A>T	ENSP00000439134.1:p.His47Leu
ENST00000540353.1:n.3216A>T
ENST00000625889.2:c.827A>T	ENSP00000486846.1:p.His276Leu
ENST00000629016.2:c.*430A>T	ENSP00000486804.1:n.*430A>T
NM_000431.3:c.983A>T	NP_000422.1:p.His328Leu
NM_001114185.2:c.983A>T	NP_001107657.1:p.His328Leu
NM_001301182.1:c.827A>T	NP_001288111.1:p.His276Leu
XM_011538372.1:c.983A>T	XP_011536674.1:p.His328Leu
XM_017019313.2:c.827A>T	XP_016874802.1:p.His276Leu
XM_017019314.1:c.983A>T	XP_016874803.1:p.His328Leu
NM_000431.4:c.983A>T MANE Select	NP_000422.1:p.His328Leu
NM_001114185.3:c.983A>T	NP_001107657.1:p.His328Leu
NM_001301182.2:c.827A>T	NP_001288111.1:p.His276Leu