Canonical Allele Identifier: CA386650929

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110032956G>C (hg19) ; chr12:g.109595151G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595151G>C , CM000674.2:g.109595151G>C	GRCh38
NC_000012.11:g.110032956G>C , CM000674.1:g.110032956G>C	GRCh37
NC_000012.10:g.108517339G>C	NCBI36
NG_007702.1:g.26457G>C , LRG_156:g.26457G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.166G>C	ENSP00000439134.1:p.Gly56Arg
ENST00000546277.6:c.1009G>C	ENSP00000438153.2:p.Gly337Arg
ENST00000636529.2:n.648G>C
ENST00000697195.1:c.*773G>C	ENSP00000513181.1:n.*773G>C
ENST00000697196.1:c.*182G>C	ENSP00000513182.1:n.*182G>C
ENST00000697197.1:n.3038G>C
ENST00000697198.1:n.1393G>C
ENST00000228510.8:c.1009G>C MANE Select	ENSP00000228510.3:p.Gly337Arg
ENST00000636529.1:c.634G>C
ENST00000636996.1:c.857G>C
ENST00000228510.7:c.1009G>C	ENSP00000228510.3:p.Gly337Arg
ENST00000392727.7:c.853G>C	ENSP00000376487.3:p.Gly285Arg
ENST00000447878.6:c.*456G>C	ENSP00000415555.2:n.*456G>C
ENST00000537237.5:c.*682G>C	ENSP00000445382.1:n.*682G>C
ENST00000539575.4:c.1009G>C	ENSP00000443551.2:p.Gly337Arg
ENST00000539696.5:c.166G>C	ENSP00000439134.1:p.Gly56Arg
ENST00000540353.1:n.3242G>C
ENST00000625889.2:c.853G>C	ENSP00000486846.1:p.Gly285Arg
ENST00000629016.2:c.*456G>C	ENSP00000486804.1:n.*456G>C
NM_000431.3:c.1009G>C	NP_000422.1:p.Gly337Arg
NM_001114185.2:c.1009G>C	NP_001107657.1:p.Gly337Arg
NM_001301182.1:c.853G>C	NP_001288111.1:p.Gly285Arg
XM_011538372.1:c.1009G>C	XP_011536674.1:p.Gly337Arg
XM_017019313.2:c.853G>C	XP_016874802.1:p.Gly285Arg
XM_017019314.1:c.1009G>C	XP_016874803.1:p.Gly337Arg
NM_000431.4:c.1009G>C MANE Select	NP_000422.1:p.Gly337Arg
NM_001114185.3:c.1009G>C	NP_001107657.1:p.Gly337Arg
NM_001301182.2:c.853G>C	NP_001288111.1:p.Gly285Arg