Canonical Allele Identifier: CA386651372

Gene: MVK

Linked Data

• dbSNP Id: rs1470759465
• gnomAD v2: 12-110034305-A-G
• gnomAD v4: 12-109596500-A-G
• MyVariant Identifiers: chr12:g.110034305A>G (hg19) ; chr12:g.109596500A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596500A>G , CM000674.2:g.109596500A>G	GRCh38
NC_000012.11:g.110034305A>G , CM000674.1:g.110034305A>G	GRCh37
NC_000012.10:g.108518688A>G	NCBI36
NG_007702.1:g.27806A>G , LRG_156:g.27806A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.271A>G	ENSP00000439134.1:p.Ile91Val
ENST00000546277.6:c.1114A>G	ENSP00000438153.2:p.Ile372Val
ENST00000636529.2:n.753A>G
ENST00000697195.1:c.*878A>G	ENSP00000513181.1:n.*878A>G
ENST00000697196.1:c.*287A>G	ENSP00000513182.1:n.*287A>G
ENST00000697197.1:n.3143A>G
ENST00000697198.1:n.1498A>G
ENST00000228510.8:c.1114A>G MANE Select	ENSP00000228510.3:p.Ile372Val
ENST00000636529.1:c.739A>G
ENST00000636996.1:c.962A>G
ENST00000228510.7:c.1114A>G	ENSP00000228510.3:p.Ile372Val
ENST00000392727.7:c.958A>G	ENSP00000376487.3:p.Ile320Val
ENST00000447878.6:c.*561A>G	ENSP00000415555.2:n.*561A>G
ENST00000537237.5:c.*787A>G	ENSP00000445382.1:n.*787A>G
ENST00000539575.4:c.1114A>G	ENSP00000443551.2:p.Ile372Val
ENST00000539696.5:c.271A>G	ENSP00000439134.1:p.Ile91Val
ENST00000540353.1:n.3347A>G
ENST00000625889.2:c.958A>G	ENSP00000486846.1:p.Ile320Val
ENST00000629016.2:c.*561A>G	ENSP00000486804.1:n.*561A>G
NM_000431.3:c.1114A>G	NP_000422.1:p.Ile372Val
NM_001114185.2:c.1114A>G	NP_001107657.1:p.Ile372Val
NM_001301182.1:c.958A>G	NP_001288111.1:p.Ile320Val
XM_011538372.1:c.1114A>G	XP_011536674.1:p.Ile372Val
XM_017019313.2:c.958A>G	XP_016874802.1:p.Ile320Val
XM_017019314.1:c.1114A>G	XP_016874803.1:p.Ile372Val
NM_000431.4:c.1114A>G MANE Select	NP_000422.1:p.Ile372Val
NM_001114185.3:c.1114A>G	NP_001107657.1:p.Ile372Val
NM_001301182.2:c.958A>G	NP_001288111.1:p.Ile320Val