Canonical Allele Identifier: CA6779279

Gene: MVK

Linked Data

• ClinVar Variation Id: 791747
• ClinVar RCV Id: RCV000974783 ; RCV001112788 ; RCV001114133 ; RCV003736946
• dbSNP Id: rs368909134
• ExAC: 12:110019365 G / A
• gnomAD v2: 12-110019365-G-A
• gnomAD v3: 12-109581560-G-A
• gnomAD v4: 12-109581560-G-A
• MyVariant Identifiers: chr12:g.110019365G>A (hg19) ; chr12:g.109581560G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109581560G>A , CM000674.2:g.109581560G>A	GRCh38
NC_000012.11:g.110019365G>A , CM000674.1:g.110019365G>A	GRCh37
NC_000012.10:g.108503748G>A	NCBI36
NG_007702.1:g.12866G>A , LRG_156:g.12866G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-92+7687G>A	ENSP00000439134.1:n.-92+7687G>A
ENST00000546277.6:c.527+10G>A	ENSP00000438153.2:n.527+10G>A
ENST00000636529.2:n.79-4462G>A
ENST00000697195.1:c.*291+10G>A	ENSP00000513181.1:n.*291+10G>A
ENST00000697196.1:c.527+10G>A	ENSP00000513182.1:n.527+10G>A
ENST00000228510.8:c.527+10G>A MANE Select	ENSP00000228510.3:n.527+10G>A
ENST00000636529.1:c.65-4462G>A
ENST00000636996.1:c.375+10G>A
ENST00000228510.7:c.527+10G>A	ENSP00000228510.3:n.527+10G>A
ENST00000392727.7:c.371+1614G>A	ENSP00000376487.3:n.371+1614G>A
ENST00000447878.6:c.227-4462G>A	ENSP00000415555.2:n.227-4462G>A
ENST00000535044.1:n.472-4462G>A
ENST00000537237.5:c.*291+10G>A	ENSP00000445382.1:n.*291+10G>A
ENST00000539575.4:c.527+10G>A	ENSP00000443551.2:n.527+10G>A
ENST00000539696.5:c.-92+7687G>A	ENSP00000439134.1:n.-92+7687G>A
ENST00000545516.1:n.72+10G>A
ENST00000545774.5:c.227-4462G>A	ENSP00000443978.1:n.227-4462G>A
ENST00000546277.5:c.527+10G>A	ENSP00000438153.1:n.527+10G>A
ENST00000625889.2:c.371+1614G>A	ENSP00000486846.1:n.371+1614G>A
ENST00000629016.2:c.227-4462G>A	ENSP00000486804.1:n.227-4462G>A
NM_000431.3:c.527+10G>A	NP_000422.1:n.527+10G>A
NM_001114185.2:c.527+10G>A	NP_001107657.1:n.527+10G>A
NM_001301182.1:c.371+1614G>A	NP_001288111.1:n.371+1614G>A
XM_011538372.1:c.527+10G>A	XP_011536674.1:n.527+10G>A
XM_017019313.2:c.371+1614G>A	XP_016874802.1:n.371+1614G>A
XM_017019314.1:c.527+10G>A	XP_016874803.1:n.527+10G>A
XM_024448982.1:c.527+10G>A	XP_024304750.1:n.527+10G>A
NM_000431.4:c.527+10G>A MANE Select	NP_000422.1:n.527+10G>A
NM_001114185.3:c.527+10G>A	NP_001107657.1:n.527+10G>A
NM_001301182.2:c.371+1614G>A	NP_001288111.1:n.371+1614G>A