Canonical Allele Identifier: CA6779272

Gene: MVK

Linked Data

• ClinVar Variation Id: 1021956
• ClinVar RCV Id: RCV001321804 ; RCV002543831 ; RCV003738041
• dbSNP Id: rs753599820
• ExAC: 12:110019340 G / A
• gnomAD v2: 12-110019340-G-A
• gnomAD v3: 12-109581535-G-A
• gnomAD v4: 12-109581535-G-A
• MyVariant Identifiers: chr12:g.110019340G>A (hg19) ; chr12:g.109581535G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109581535G>A , CM000674.2:g.109581535G>A	GRCh38
NC_000012.11:g.110019340G>A , CM000674.1:g.110019340G>A	GRCh37
NC_000012.10:g.108503723G>A	NCBI36
NG_007702.1:g.12841G>A , LRG_156:g.12841G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.-92+7662G>A	ENSP00000439134.1:n.-92+7662G>A
ENST00000546277.6:c.512G>A	ENSP00000438153.2:p.Gly171Glu
ENST00000636529.2:n.79-4487G>A
ENST00000697195.1:c.*276G>A	ENSP00000513181.1:n.*276G>A
ENST00000697196.1:c.512G>A	ENSP00000513182.1:p.Gly171Glu
ENST00000228510.8:c.512G>A MANE Select	ENSP00000228510.3:p.Gly171Glu
ENST00000636529.1:c.65-4487G>A
ENST00000636996.1:c.360G>A
ENST00000228510.7:c.512G>A	ENSP00000228510.3:p.Gly171Glu
ENST00000392727.7:c.371+1589G>A	ENSP00000376487.3:n.371+1589G>A
ENST00000447878.6:c.227-4487G>A	ENSP00000415555.2:n.227-4487G>A
ENST00000535044.1:n.472-4487G>A
ENST00000537237.5:c.*276G>A	ENSP00000445382.1:n.*276G>A
ENST00000539335.5:c.512G>A
ENST00000539575.4:c.512G>A	ENSP00000443551.2:p.Gly171Glu
ENST00000539696.5:c.-92+7662G>A	ENSP00000439134.1:n.-92+7662G>A
ENST00000545516.1:n.57G>A
ENST00000545774.5:c.227-4487G>A	ENSP00000443978.1:n.227-4487G>A
ENST00000546277.5:c.512G>A	ENSP00000438153.1:p.Gly171Glu
ENST00000625889.2:c.371+1589G>A	ENSP00000486846.1:n.371+1589G>A
ENST00000629016.2:c.227-4487G>A	ENSP00000486804.1:n.227-4487G>A
NM_000431.3:c.512G>A	NP_000422.1:p.Gly171Glu
NM_001114185.2:c.512G>A	NP_001107657.1:p.Gly171Glu
NM_001301182.1:c.371+1589G>A	NP_001288111.1:n.371+1589G>A
XM_011538372.1:c.512G>A	XP_011536674.1:p.Gly171Glu
XM_017019313.2:c.371+1589G>A	XP_016874802.1:n.371+1589G>A
XM_017019314.1:c.512G>A	XP_016874803.1:p.Gly171Glu
XM_024448982.1:c.512G>A	XP_024304750.1:p.Gly171Glu
NM_000431.4:c.512G>A MANE Select	NP_000422.1:p.Gly171Glu
NM_001114185.3:c.512G>A	NP_001107657.1:p.Gly171Glu
NM_001301182.2:c.371+1589G>A	NP_001288111.1:n.371+1589G>A