Canonical Allele Identifier: CA2575285818

Gene: MVK

Linked Data

• ClinVar Variation Id: 2109120
• ClinVar RCV Id: RCV003038203
• gnomAD v4: 12-109586012-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109586012G>T , CM000674.2:g.109586012G>T	GRCh38
NC_000012.11:g.110023817G>T , CM000674.1:g.110023817G>T	GRCh37
NC_000012.10:g.108508200G>T	NCBI36
NG_007702.1:g.17318G>T , LRG_156:g.17318G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4834G>T	ENSP00000439134.1:n.-91-4834G>T
ENST00000546277.6:c.528-10G>T	ENSP00000438153.2:n.528-10G>T
ENST00000636529.2:n.79-10G>T
ENST00000697195.1:c.*292-10G>T	ENSP00000513181.1:n.*292-10G>T
ENST00000697196.1:c.528-10G>T	ENSP00000513182.1:n.528-10G>T
ENST00000228510.8:c.528-10G>T MANE Select	ENSP00000228510.3:n.528-10G>T
ENST00000636529.1:c.65-10G>T
ENST00000636996.1:c.376-10G>T
ENST00000228510.7:c.528-10G>T	ENSP00000228510.3:n.528-10G>T
ENST00000392727.7:c.372-10G>T	ENSP00000376487.3:n.372-10G>T
ENST00000447878.6:c.227-10G>T	ENSP00000415555.2:n.227-10G>T
ENST00000535044.1:n.472-10G>T
ENST00000537237.5:c.*292-10G>T	ENSP00000445382.1:n.*292-10G>T
ENST00000539575.4:c.528-10G>T	ENSP00000443551.2:n.528-10G>T
ENST00000539696.5:c.-91-4834G>T	ENSP00000439134.1:n.-91-4834G>T
ENST00000545516.1:n.73-10G>T
ENST00000545774.5:c.227-10G>T	ENSP00000443978.1:n.227-10G>T
ENST00000546277.5:c.528-10G>T	ENSP00000438153.1:n.528-10G>T
ENST00000625889.2:c.372-10G>T	ENSP00000486846.1:n.372-10G>T
ENST00000629016.2:c.227-10G>T	ENSP00000486804.1:n.227-10G>T
NM_000431.3:c.528-10G>T	NP_000422.1:n.528-10G>T
NM_001114185.2:c.528-10G>T	NP_001107657.1:n.528-10G>T
NM_001301182.1:c.372-10G>T	NP_001288111.1:n.372-10G>T
XM_011538372.1:c.528-10G>T	XP_011536674.1:n.528-10G>T
XM_017019313.2:c.372-10G>T	XP_016874802.1:n.372-10G>T
XM_017019314.1:c.528-10G>T	XP_016874803.1:n.528-10G>T
XM_024448982.1:c.528-10G>T	XP_024304750.1:n.528-10G>T
NM_000431.4:c.528-10G>T MANE Select	NP_000422.1:n.528-10G>T
NM_001114185.3:c.528-10G>T	NP_001107657.1:n.528-10G>T
NM_001301182.2:c.372-10G>T	NP_001288111.1:n.372-10G>T