Canonical Allele Identifier: CA386651269

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110034260A>T (hg19) ; chr12:g.109596455A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596455A>T , CM000674.2:g.109596455A>T	GRCh38
NC_000012.11:g.110034260A>T , CM000674.1:g.110034260A>T	GRCh37
NC_000012.10:g.108518643A>T	NCBI36
NG_007702.1:g.27761A>T , LRG_156:g.27761A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.226A>T	ENSP00000439134.1:p.Lys76Ter
ENST00000546277.6:c.1069A>T	ENSP00000438153.2:p.Lys357Ter
ENST00000636529.2:n.708A>T
ENST00000697195.1:c.*833A>T	ENSP00000513181.1:n.*833A>T
ENST00000697196.1:c.*242A>T	ENSP00000513182.1:n.*242A>T
ENST00000697197.1:n.3098A>T
ENST00000697198.1:n.1453A>T
ENST00000228510.8:c.1069A>T MANE Select	ENSP00000228510.3:p.Lys357Ter
ENST00000636529.1:c.694A>T
ENST00000636996.1:c.917A>T
ENST00000228510.7:c.1069A>T	ENSP00000228510.3:p.Lys357Ter
ENST00000392727.7:c.913A>T	ENSP00000376487.3:p.Lys305Ter
ENST00000447878.6:c.*516A>T	ENSP00000415555.2:n.*516A>T
ENST00000537237.5:c.*742A>T	ENSP00000445382.1:n.*742A>T
ENST00000539575.4:c.1069A>T	ENSP00000443551.2:p.Lys357Ter
ENST00000539696.5:c.226A>T	ENSP00000439134.1:p.Lys76Ter
ENST00000540353.1:n.3302A>T
ENST00000625889.2:c.913A>T	ENSP00000486846.1:p.Lys305Ter
ENST00000629016.2:c.*516A>T	ENSP00000486804.1:n.*516A>T
NM_000431.3:c.1069A>T	NP_000422.1:p.Lys357Ter
NM_001114185.2:c.1069A>T	NP_001107657.1:p.Lys357Ter
NM_001301182.1:c.913A>T	NP_001288111.1:p.Lys305Ter
XM_011538372.1:c.1069A>T	XP_011536674.1:p.Lys357Ter
XM_017019313.2:c.913A>T	XP_016874802.1:p.Lys305Ter
XM_017019314.1:c.1069A>T	XP_016874803.1:p.Lys357Ter
NM_000431.4:c.1069A>T MANE Select	NP_000422.1:p.Lys357Ter
NM_001114185.3:c.1069A>T	NP_001107657.1:p.Lys357Ter
NM_001301182.2:c.913A>T	NP_001288111.1:p.Lys305Ter