Canonical Allele Identifier: CA6779457

Gene: MVK

Linked Data

• dbSNP Id: rs757079671
• ExAC: 12:110034314 C / G
• gnomAD v2: 12-110034314-C-G
• gnomAD v4: 12-109596509-C-G
• MyVariant Identifiers: chr12:g.110034314C>G (hg19) ; chr12:g.109596509C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596509C>G , CM000674.2:g.109596509C>G	GRCh38
NC_000012.11:g.110034314C>G , CM000674.1:g.110034314C>G	GRCh37
NC_000012.10:g.108518697C>G	NCBI36
NG_007702.1:g.27815C>G , LRG_156:g.27815C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.280C>G	ENSP00000439134.1:p.Pro94Ala
ENST00000546277.6:c.1123C>G	ENSP00000438153.2:p.Pro375Ala
ENST00000636529.2:n.762C>G
ENST00000697195.1:c.*887C>G	ENSP00000513181.1:n.*887C>G
ENST00000697196.1:c.*296C>G	ENSP00000513182.1:n.*296C>G
ENST00000697197.1:n.3152C>G
ENST00000697198.1:n.1507C>G
ENST00000228510.8:c.1123C>G MANE Select	ENSP00000228510.3:p.Pro375Ala
ENST00000636529.1:c.748C>G
ENST00000636996.1:c.971C>G
ENST00000228510.7:c.1123C>G	ENSP00000228510.3:p.Pro375Ala
ENST00000392727.7:c.967C>G	ENSP00000376487.3:p.Pro323Ala
ENST00000447878.6:c.*570C>G	ENSP00000415555.2:n.*570C>G
ENST00000537237.5:c.*796C>G	ENSP00000445382.1:n.*796C>G
ENST00000539575.4:c.1123C>G	ENSP00000443551.2:p.Pro375Ala
ENST00000539696.5:c.280C>G	ENSP00000439134.1:p.Pro94Ala
ENST00000540353.1:n.3356C>G
ENST00000625889.2:c.967C>G	ENSP00000486846.1:p.Pro323Ala
ENST00000629016.2:c.*570C>G	ENSP00000486804.1:n.*570C>G
NM_000431.3:c.1123C>G	NP_000422.1:p.Pro375Ala
NM_001114185.2:c.1123C>G	NP_001107657.1:p.Pro375Ala
NM_001301182.1:c.967C>G	NP_001288111.1:p.Pro323Ala
XM_011538372.1:c.1123C>G	XP_011536674.1:p.Pro375Ala
XM_017019313.2:c.967C>G	XP_016874802.1:p.Pro323Ala
XM_017019314.1:c.1123C>G	XP_016874803.1:p.Pro375Ala
NM_000431.4:c.1123C>G MANE Select	NP_000422.1:p.Pro375Ala
NM_001114185.3:c.1123C>G	NP_001107657.1:p.Pro375Ala
NM_001301182.2:c.967C>G	NP_001288111.1:p.Pro323Ala