Canonical Allele Identifier: CA386651303

Gene: MVK

Linked Data

• COSMIC: COSM4626985
• MyVariant Identifiers: chr12:g.110034276G>A (hg19) ; chr12:g.109596471G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596471G>A , CM000674.2:g.109596471G>A	GRCh38
NC_000012.11:g.110034276G>A , CM000674.1:g.110034276G>A	GRCh37
NC_000012.10:g.108518659G>A	NCBI36
NG_007702.1:g.27777G>A , LRG_156:g.27777G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.242G>A	ENSP00000439134.1:p.Ser81Asn
ENST00000546277.6:c.1085G>A	ENSP00000438153.2:p.Ser362Asn
ENST00000636529.2:n.724G>A
ENST00000697195.1:c.*849G>A	ENSP00000513181.1:n.*849G>A
ENST00000697196.1:c.*258G>A	ENSP00000513182.1:n.*258G>A
ENST00000697197.1:n.3114G>A
ENST00000697198.1:n.1469G>A
ENST00000228510.8:c.1085G>A MANE Select	ENSP00000228510.3:p.Ser362Asn
ENST00000636529.1:c.710G>A
ENST00000636996.1:c.933G>A
ENST00000228510.7:c.1085G>A	ENSP00000228510.3:p.Ser362Asn
ENST00000392727.7:c.929G>A	ENSP00000376487.3:p.Ser310Asn
ENST00000447878.6:c.*532G>A	ENSP00000415555.2:n.*532G>A
ENST00000537237.5:c.*758G>A	ENSP00000445382.1:n.*758G>A
ENST00000539575.4:c.1085G>A	ENSP00000443551.2:p.Ser362Asn
ENST00000539696.5:c.242G>A	ENSP00000439134.1:p.Ser81Asn
ENST00000540353.1:n.3318G>A
ENST00000625889.2:c.929G>A	ENSP00000486846.1:p.Ser310Asn
ENST00000629016.2:c.*532G>A	ENSP00000486804.1:n.*532G>A
NM_000431.3:c.1085G>A	NP_000422.1:p.Ser362Asn
NM_001114185.2:c.1085G>A	NP_001107657.1:p.Ser362Asn
NM_001301182.1:c.929G>A	NP_001288111.1:p.Ser310Asn
XM_011538372.1:c.1085G>A	XP_011536674.1:p.Ser362Asn
XM_017019313.2:c.929G>A	XP_016874802.1:p.Ser310Asn
XM_017019314.1:c.1085G>A	XP_016874803.1:p.Ser362Asn
NM_000431.4:c.1085G>A MANE Select	NP_000422.1:p.Ser362Asn
NM_001114185.3:c.1085G>A	NP_001107657.1:p.Ser362Asn
NM_001301182.2:c.929G>A	NP_001288111.1:p.Ser310Asn