Canonical Allele Identifier: CA386649009

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110028596T>C (hg19) ; chr12:g.109590791T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109590791T>C , CM000674.2:g.109590791T>C	GRCh38
NC_000012.11:g.110028596T>C , CM000674.1:g.110028596T>C	GRCh37
NC_000012.10:g.108512979T>C	NCBI36
NG_007702.1:g.22097T>C , LRG_156:g.22097T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-55T>C	ENSP00000439134.1:n.-91-55T>C
ENST00000546277.6:c.698T>C	ENSP00000438153.2:p.Leu233Pro
ENST00000636529.2:n.337T>C
ENST00000697195.1:c.*462T>C	ENSP00000513181.1:n.*462T>C
ENST00000697196.1:c.786T>C	ENSP00000513182.1:p.Pro262=
ENST00000697197.1:n.2348T>C
ENST00000228510.8:c.698T>C MANE Select	ENSP00000228510.3:p.Leu233Pro
ENST00000636529.1:c.323T>C
ENST00000636996.1:c.546T>C
ENST00000228510.7:c.698T>C	ENSP00000228510.3:p.Leu233Pro
ENST00000392727.7:c.542T>C	ENSP00000376487.3:p.Leu181Pro
ENST00000447878.6:c.*145T>C	ENSP00000415555.2:n.*145T>C
ENST00000537237.5:c.*442-450T>C	ENSP00000445382.1:n.*442-450T>C
ENST00000539575.4:c.698T>C	ENSP00000443551.2:p.Leu233Pro
ENST00000539696.5:c.-91-55T>C	ENSP00000439134.1:n.-91-55T>C
ENST00000540353.1:n.2931T>C
ENST00000625889.2:c.542T>C	ENSP00000486846.1:p.Leu181Pro
ENST00000629016.2:c.*145T>C	ENSP00000486804.1:n.*145T>C
NM_000431.3:c.698T>C	NP_000422.1:p.Leu233Pro
NM_001114185.2:c.698T>C	NP_001107657.1:p.Leu233Pro
NM_001301182.1:c.542T>C	NP_001288111.1:p.Leu181Pro
XM_011538372.1:c.698T>C	XP_011536674.1:p.Leu233Pro
XM_017019313.2:c.542T>C	XP_016874802.1:p.Leu181Pro
XM_017019314.1:c.698T>C	XP_016874803.1:p.Leu233Pro
XM_024448982.1:c.698T>C	XP_024304750.1:p.Leu233Pro
NM_000431.4:c.698T>C MANE Select	NP_000422.1:p.Leu233Pro
NM_001114185.3:c.698T>C	NP_001107657.1:p.Leu233Pro
NM_001301182.2:c.542T>C	NP_001288111.1:p.Leu181Pro