Canonical Allele Identifier: CA481713798

Gene: MVK

Linked Data

• ClinVar Variation Id: 2939597
• ClinVar RCV Id: RCV003794763
• gnomAD v4: 12-109586052-C-T
• MyVariant Identifiers: chr12:g.110023857C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109586052C>T , CM000674.2:g.109586052C>T	GRCh38
NC_000012.11:g.110023857C>T , CM000674.1:g.110023857C>T	GRCh37
NC_000012.10:g.108508240C>T	NCBI36
NG_007702.1:g.17358C>T , LRG_156:g.17358C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4794C>T	ENSP00000439134.1:n.-91-4794C>T
ENST00000546277.6:c.558C>T	ENSP00000438153.2:p.Asn186=
ENST00000636529.2:n.109C>T
ENST00000697195.1:c.*322C>T	ENSP00000513181.1:n.*322C>T
ENST00000697196.1:c.558C>T	ENSP00000513182.1:p.Asn186=
ENST00000228510.8:c.558C>T MANE Select	ENSP00000228510.3:p.Asn186=
ENST00000636529.1:c.95C>T
ENST00000636996.1:c.406C>T
ENST00000228510.7:c.558C>T	ENSP00000228510.3:p.Asn186=
ENST00000392727.7:c.402C>T	ENSP00000376487.3:p.Asn134=
ENST00000447878.6:c.*5C>T	ENSP00000415555.2:n.*5C>T
ENST00000535044.1:n.502C>T
ENST00000537237.5:c.*322C>T	ENSP00000445382.1:n.*322C>T
ENST00000539575.4:c.558C>T	ENSP00000443551.2:p.Asn186=
ENST00000539696.5:c.-91-4794C>T	ENSP00000439134.1:n.-91-4794C>T
ENST00000545516.1:n.103C>T
ENST00000545774.5:c.*5C>T	ENSP00000443978.1:n.*5C>T
ENST00000546277.5:c.558C>T	ENSP00000438153.1:p.Asn186=
ENST00000625889.2:c.402C>T	ENSP00000486846.1:p.Asn134=
ENST00000629016.2:c.*5C>T	ENSP00000486804.1:n.*5C>T
NM_000431.3:c.558C>T	NP_000422.1:p.Asn186=
NM_001114185.2:c.558C>T	NP_001107657.1:p.Asn186=
NM_001301182.1:c.402C>T	NP_001288111.1:p.Asn134=
XM_011538372.1:c.558C>T	XP_011536674.1:p.Asn186=
XM_017019313.2:c.402C>T	XP_016874802.1:p.Asn134=
XM_017019314.1:c.558C>T	XP_016874803.1:p.Asn186=
XM_024448982.1:c.558C>T	XP_024304750.1:p.Asn186=
NM_000431.4:c.558C>T MANE Select	NP_000422.1:p.Asn186=
NM_001114185.3:c.558C>T	NP_001107657.1:p.Asn186=
NM_001301182.2:c.402C>T	NP_001288111.1:p.Asn134=