Canonical Allele Identifier: CA6779384

Gene: MVK

Linked Data

• ClinVar Variation Id: 234380
• ClinVar RCV Id: RCV000213141 ; RCV001340239
• dbSNP Id: rs759997079
• ExAC: 12:110029079 A / G
• gnomAD v2: 12-110029079-A-G
• gnomAD v3: 12-109591274-A-G
• gnomAD v4: 12-109591274-A-G
• MyVariant Identifiers: chr12:g.110029079A>G (hg19) ; chr12:g.109591274A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591274A>G , CM000674.2:g.109591274A>G	GRCh38
NC_000012.11:g.110029079A>G , CM000674.1:g.110029079A>G	GRCh37
NC_000012.10:g.108513462A>G	NCBI36
NG_007702.1:g.22580A>G , LRG_156:g.22580A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-42A>G	ENSP00000439134.1:n.-42A>G
ENST00000546277.6:c.802A>G	ENSP00000438153.2:p.Ile268Val
ENST00000636529.2:n.441A>G
ENST00000697195.1:c.*566A>G	ENSP00000513181.1:n.*566A>G
ENST00000697196.1:c.890A>G	ENSP00000513182.1:p.Asn297Ser
ENST00000697197.1:n.2831A>G
ENST00000228510.8:c.802A>G MANE Select	ENSP00000228510.3:p.Ile268Val
ENST00000636529.1:c.427A>G
ENST00000636996.1:c.650A>G
ENST00000228510.7:c.802A>G	ENSP00000228510.3:p.Ile268Val
ENST00000392727.7:c.646A>G	ENSP00000376487.3:p.Ile216Val
ENST00000447878.6:c.*249A>G	ENSP00000415555.2:n.*249A>G
ENST00000537237.5:c.*475A>G	ENSP00000445382.1:n.*475A>G
ENST00000539575.4:c.802A>G	ENSP00000443551.2:p.Ile268Val
ENST00000539696.5:c.-42A>G	ENSP00000439134.1:n.-42A>G
ENST00000540353.1:n.3035A>G
ENST00000625889.2:c.646A>G	ENSP00000486846.1:p.Ile216Val
ENST00000629016.2:c.*249A>G	ENSP00000486804.1:n.*249A>G
NM_000431.3:c.802A>G	NP_000422.1:p.Ile268Val
NM_001114185.2:c.802A>G	NP_001107657.1:p.Ile268Val
NM_001301182.1:c.646A>G	NP_001288111.1:p.Ile216Val
XM_011538372.1:c.802A>G	XP_011536674.1:p.Ile268Val
XM_017019313.2:c.646A>G	XP_016874802.1:p.Ile216Val
XM_017019314.1:c.802A>G	XP_016874803.1:p.Ile268Val
XM_024448982.1:c.802A>G	XP_024304750.1:p.Ile268Val
NM_000431.4:c.802A>G MANE Select	NP_000422.1:p.Ile268Val
NM_001114185.3:c.802A>G	NP_001107657.1:p.Ile268Val
NM_001301182.2:c.646A>G	NP_001288111.1:p.Ile216Val