Canonical Allele Identifier: CA121776

Gene: MVK

Linked Data

• ClinVar Variation Id: 11929
• ClinVar RCV Id: RCV000012705 ; RCV000221789 ; RCV000191108 ; RCV000627780 ; RCV000791161 ; RCV000999977 ; RCV001270083 ; RCV002262563 ; RCV002512987
• dbSNP Id: rs28934897
• ExAC: 12:110034320 G / A
• gnomAD v2: 12-110034320-G-A
• gnomAD v3: 12-109596515-G-A
• gnomAD v4: 12-109596515-G-A
• COSMIC: COSM1239505
• MyVariant Identifiers: chr12:g.110034320G>A (hg19) ; chr12:g.109596515G>A (hg38)
• PubMed: PMID:10369261 ; PMID:10369262 ; PMID:11313769 ; PMID:12444096 ; PMID:12634869 ; PMID:15536479 ; PMID:19011501 ; PMID:21228398 ; PMID:22038276 ; PMID:23692791 ; PMID:23979089 ; PMID:24088041 ; PMID:24177804 ; PMID:24233262 ; PMID:24360083 ; PMID:24470648 ; PMID:24561416 ; PMID:25708585 ; PMID:25866490 ; PMID:26633545 ; PMID:26977311

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596515G>A , CM000674.2:g.109596515G>A	GRCh38
NC_000012.11:g.110034320G>A , CM000674.1:g.110034320G>A	GRCh37
NC_000012.10:g.108518703G>A	NCBI36
NG_007702.1:g.27821G>A , LRG_156:g.27821G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.286G>A	ENSP00000439134.1:p.Val96Ile
ENST00000546277.6:c.1129G>A	ENSP00000438153.2:p.Val377Ile
ENST00000636529.2:n.768G>A
ENST00000697195.1:c.*893G>A	ENSP00000513181.1:n.*893G>A
ENST00000697196.1:c.*302G>A	ENSP00000513182.1:n.*302G>A
ENST00000697197.1:n.3158G>A
ENST00000697198.1:n.1513G>A
ENST00000228510.8:c.1129G>A MANE Select	ENSP00000228510.3:p.Val377Ile
ENST00000636529.1:c.754G>A
ENST00000636996.1:c.977G>A
ENST00000228510.7:c.1129G>A	ENSP00000228510.3:p.Val377Ile
ENST00000392727.7:c.973G>A	ENSP00000376487.3:p.Val325Ile
ENST00000447878.6:c.*576G>A	ENSP00000415555.2:n.*576G>A
ENST00000537237.5:c.*802G>A	ENSP00000445382.1:n.*802G>A
ENST00000539575.4:c.1129G>A	ENSP00000443551.2:p.Val377Ile
ENST00000539696.5:c.286G>A	ENSP00000439134.1:p.Val96Ile
ENST00000540353.1:n.3362G>A
ENST00000625889.2:c.973G>A	ENSP00000486846.1:p.Val325Ile
ENST00000629016.2:c.*576G>A	ENSP00000486804.1:n.*576G>A
NM_000431.3:c.1129G>A	NP_000422.1:p.Val377Ile
NM_001114185.2:c.1129G>A	NP_001107657.1:p.Val377Ile
NM_001301182.1:c.973G>A	NP_001288111.1:p.Val325Ile
XM_011538372.1:c.1129G>A	XP_011536674.1:p.Val377Ile
XM_017019313.2:c.973G>A	XP_016874802.1:p.Val325Ile
XM_017019314.1:c.1129G>A	XP_016874803.1:p.Val377Ile
NM_000431.4:c.1129G>A MANE Select	NP_000422.1:p.Val377Ile
NM_001114185.3:c.1129G>A	NP_001107657.1:p.Val377Ile
NM_001301182.2:c.973G>A	NP_001288111.1:p.Val325Ile