Canonical Allele Identifier: CA243461834

Gene: MVK

Linked Data

• dbSNP Id: rs1009360899
• gnomAD v3: 12-109595169-C-A
• gnomAD v4: 12-109595169-C-A
• MyVariant Identifiers: chr12:g.110032974C>A (hg19) ; chr12:g.109595169C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595169C>A , CM000674.2:g.109595169C>A	GRCh38
NC_000012.11:g.110032974C>A , CM000674.1:g.110032974C>A	GRCh37
NC_000012.10:g.108517357C>A	NCBI36
NG_007702.1:g.26475C>A , LRG_156:g.26475C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.184C>A	ENSP00000439134.1:p.Leu62Ile
ENST00000546277.6:c.1027C>A	ENSP00000438153.2:p.Leu343Ile
ENST00000636529.2:n.666C>A
ENST00000697195.1:c.*791C>A	ENSP00000513181.1:n.*791C>A
ENST00000697196.1:c.*200C>A	ENSP00000513182.1:n.*200C>A
ENST00000697197.1:n.3056C>A
ENST00000697198.1:n.1411C>A
ENST00000228510.8:c.1027C>A MANE Select	ENSP00000228510.3:p.Leu343Ile
ENST00000636529.1:c.652C>A
ENST00000636996.1:c.875C>A
ENST00000228510.7:c.1027C>A	ENSP00000228510.3:p.Leu343Ile
ENST00000392727.7:c.871C>A	ENSP00000376487.3:p.Leu291Ile
ENST00000447878.6:c.*474C>A	ENSP00000415555.2:n.*474C>A
ENST00000537237.5:c.*700C>A	ENSP00000445382.1:n.*700C>A
ENST00000539575.4:c.1027C>A	ENSP00000443551.2:p.Leu343Ile
ENST00000539696.5:c.184C>A	ENSP00000439134.1:p.Leu62Ile
ENST00000540353.1:n.3260C>A
ENST00000625889.2:c.871C>A	ENSP00000486846.1:p.Leu291Ile
ENST00000629016.2:c.*474C>A	ENSP00000486804.1:n.*474C>A
NM_000431.3:c.1027C>A	NP_000422.1:p.Leu343Ile
NM_001114185.2:c.1027C>A	NP_001107657.1:p.Leu343Ile
NM_001301182.1:c.871C>A	NP_001288111.1:p.Leu291Ile
XM_011538372.1:c.1027C>A	XP_011536674.1:p.Leu343Ile
XM_017019313.2:c.871C>A	XP_016874802.1:p.Leu291Ile
XM_017019314.1:c.1027C>A	XP_016874803.1:p.Leu343Ile
NM_000431.4:c.1027C>A MANE Select	NP_000422.1:p.Leu343Ile
NM_001114185.3:c.1027C>A	NP_001107657.1:p.Leu343Ile
NM_001301182.2:c.871C>A	NP_001288111.1:p.Leu291Ile