Canonical Allele Identifier: CA6779423

Gene: MVK

Linked Data

• ClinVar Variation Id: 811196
• ClinVar RCV Id: RCV001000904 ; RCV001370355 ; RCV003493769
• dbSNP Id: rs752469036
• ExAC: 12:110032892 G / A
• gnomAD v2: 12-110032892-G-A
• gnomAD v3: 12-109595087-G-A
• gnomAD v4: 12-109595087-G-A
• MyVariant Identifiers: chr12:g.110032892G>A (hg19) ; chr12:g.109595087G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595087G>A , CM000674.2:g.109595087G>A	GRCh38
NC_000012.11:g.110032892G>A , CM000674.1:g.110032892G>A	GRCh37
NC_000012.10:g.108517275G>A	NCBI36
NG_007702.1:g.26393G>A , LRG_156:g.26393G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.102G>A	ENSP00000439134.1:p.Leu34=
ENST00000546277.6:c.945G>A	ENSP00000438153.2:p.Leu315=
ENST00000636529.2:n.584G>A
ENST00000697195.1:c.*709G>A	ENSP00000513181.1:n.*709G>A
ENST00000697196.1:c.*118G>A	ENSP00000513182.1:n.*118G>A
ENST00000697197.1:n.2974G>A
ENST00000697198.1:n.1329G>A
ENST00000228510.8:c.945G>A MANE Select	ENSP00000228510.3:p.Leu315=
ENST00000636529.1:c.570G>A
ENST00000636996.1:c.793G>A
ENST00000228510.7:c.945G>A	ENSP00000228510.3:p.Leu315=
ENST00000392727.7:c.789G>A	ENSP00000376487.3:p.Leu263=
ENST00000447878.6:c.*392G>A	ENSP00000415555.2:n.*392G>A
ENST00000537237.5:c.*618G>A	ENSP00000445382.1:n.*618G>A
ENST00000539575.4:c.945G>A	ENSP00000443551.2:p.Leu315=
ENST00000539696.5:c.102G>A	ENSP00000439134.1:p.Leu34=
ENST00000540353.1:n.3178G>A
ENST00000625889.2:c.789G>A	ENSP00000486846.1:p.Leu263=
ENST00000629016.2:c.*392G>A	ENSP00000486804.1:n.*392G>A
NM_000431.3:c.945G>A	NP_000422.1:p.Leu315=
NM_001114185.2:c.945G>A	NP_001107657.1:p.Leu315=
NM_001301182.1:c.789G>A	NP_001288111.1:p.Leu263=
XM_011538372.1:c.945G>A	XP_011536674.1:p.Leu315=
XM_017019313.2:c.789G>A	XP_016874802.1:p.Leu263=
XM_017019314.1:c.945G>A	XP_016874803.1:p.Leu315=
NM_000431.4:c.945G>A MANE Select	NP_000422.1:p.Leu315=
NM_001114185.3:c.945G>A	NP_001107657.1:p.Leu315=
NM_001301182.2:c.789G>A	NP_001288111.1:p.Leu263=