Canonical Allele Identifier: CA386650750

Gene: MVK

Linked Data

• dbSNP Id: rs1296122904
• gnomAD v3: 12-109595113-C-T
• gnomAD v4: 12-109595113-C-T
• MyVariant Identifiers: chr12:g.110032918C>T (hg19) ; chr12:g.109595113C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595113C>T , CM000674.2:g.109595113C>T	GRCh38
NC_000012.11:g.110032918C>T , CM000674.1:g.110032918C>T	GRCh37
NC_000012.10:g.108517301C>T	NCBI36
NG_007702.1:g.26419C>T , LRG_156:g.26419C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.128C>T	ENSP00000439134.1:p.Ala43Val
ENST00000546277.6:c.971C>T	ENSP00000438153.2:p.Ala324Val
ENST00000636529.2:n.610C>T
ENST00000697195.1:c.*735C>T	ENSP00000513181.1:n.*735C>T
ENST00000697196.1:c.*144C>T	ENSP00000513182.1:n.*144C>T
ENST00000697197.1:n.3000C>T
ENST00000697198.1:n.1355C>T
ENST00000228510.8:c.971C>T MANE Select	ENSP00000228510.3:p.Ala324Val
ENST00000636529.1:c.596C>T
ENST00000636996.1:c.819C>T
ENST00000228510.7:c.971C>T	ENSP00000228510.3:p.Ala324Val
ENST00000392727.7:c.815C>T	ENSP00000376487.3:p.Ala272Val
ENST00000447878.6:c.*418C>T	ENSP00000415555.2:n.*418C>T
ENST00000537237.5:c.*644C>T	ENSP00000445382.1:n.*644C>T
ENST00000539575.4:c.971C>T	ENSP00000443551.2:p.Ala324Val
ENST00000539696.5:c.128C>T	ENSP00000439134.1:p.Ala43Val
ENST00000540353.1:n.3204C>T
ENST00000625889.2:c.815C>T	ENSP00000486846.1:p.Ala272Val
ENST00000629016.2:c.*418C>T	ENSP00000486804.1:n.*418C>T
NM_000431.3:c.971C>T	NP_000422.1:p.Ala324Val
NM_001114185.2:c.971C>T	NP_001107657.1:p.Ala324Val
NM_001301182.1:c.815C>T	NP_001288111.1:p.Ala272Val
XM_011538372.1:c.971C>T	XP_011536674.1:p.Ala324Val
XM_017019313.2:c.815C>T	XP_016874802.1:p.Ala272Val
XM_017019314.1:c.971C>T	XP_016874803.1:p.Ala324Val
NM_000431.4:c.971C>T MANE Select	NP_000422.1:p.Ala324Val
NM_001114185.3:c.971C>T	NP_001107657.1:p.Ala324Val
NM_001301182.2:c.815C>T	NP_001288111.1:p.Ala272Val