Canonical Allele Identifier: CA386650772

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110032924G>C (hg19) ; chr12:g.109595119G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595119G>C , CM000674.2:g.109595119G>C	GRCh38
NC_000012.11:g.110032924G>C , CM000674.1:g.110032924G>C	GRCh37
NC_000012.10:g.108517307G>C	NCBI36
NG_007702.1:g.26425G>C , LRG_156:g.26425G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.134G>C	ENSP00000439134.1:p.Gly45Ala
ENST00000546277.6:c.977G>C	ENSP00000438153.2:p.Gly326Ala
ENST00000636529.2:n.616G>C
ENST00000697195.1:c.*741G>C	ENSP00000513181.1:n.*741G>C
ENST00000697196.1:c.*150G>C	ENSP00000513182.1:n.*150G>C
ENST00000697197.1:n.3006G>C
ENST00000697198.1:n.1361G>C
ENST00000228510.8:c.977G>C MANE Select	ENSP00000228510.3:p.Gly326Ala
ENST00000636529.1:c.602G>C
ENST00000636996.1:c.825G>C
ENST00000228510.7:c.977G>C	ENSP00000228510.3:p.Gly326Ala
ENST00000392727.7:c.821G>C	ENSP00000376487.3:p.Gly274Ala
ENST00000447878.6:c.*424G>C	ENSP00000415555.2:n.*424G>C
ENST00000537237.5:c.*650G>C	ENSP00000445382.1:n.*650G>C
ENST00000539575.4:c.977G>C	ENSP00000443551.2:p.Gly326Ala
ENST00000539696.5:c.134G>C	ENSP00000439134.1:p.Gly45Ala
ENST00000540353.1:n.3210G>C
ENST00000625889.2:c.821G>C	ENSP00000486846.1:p.Gly274Ala
ENST00000629016.2:c.*424G>C	ENSP00000486804.1:n.*424G>C
NM_000431.3:c.977G>C	NP_000422.1:p.Gly326Ala
NM_001114185.2:c.977G>C	NP_001107657.1:p.Gly326Ala
NM_001301182.1:c.821G>C	NP_001288111.1:p.Gly274Ala
XM_011538372.1:c.977G>C	XP_011536674.1:p.Gly326Ala
XM_017019313.2:c.821G>C	XP_016874802.1:p.Gly274Ala
XM_017019314.1:c.977G>C	XP_016874803.1:p.Gly326Ala
NM_000431.4:c.977G>C MANE Select	NP_000422.1:p.Gly326Ala
NM_001114185.3:c.977G>C	NP_001107657.1:p.Gly326Ala
NM_001301182.2:c.821G>C	NP_001288111.1:p.Gly274Ala