Canonical Allele Identifier: CA6779383

Gene: MVK

Linked Data

• ClinVar Variation Id: 2943883
• ClinVar RCV Id: RCV003803441
• dbSNP Id: rs104895315
• ExAC: 12:110029067 C / G
• gnomAD v2: 12-110029067-C-G
• gnomAD v3: 12-109591262-C-G
• gnomAD v4: 12-109591262-C-G
• MyVariant Identifiers: chr12:g.110029067C>G (hg19) ; chr12:g.109591262C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591262C>G , CM000674.2:g.109591262C>G	GRCh38
NC_000012.11:g.110029067C>G , CM000674.1:g.110029067C>G	GRCh37
NC_000012.10:g.108513450C>G	NCBI36
NG_007702.1:g.22568C>G , LRG_156:g.22568C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.-54C>G	ENSP00000439134.1:n.-54C>G
ENST00000546277.6:c.790C>G	ENSP00000438153.2:p.Leu264Val
ENST00000636529.2:n.429C>G
ENST00000697195.1:c.*554C>G	ENSP00000513181.1:n.*554C>G
ENST00000697196.1:c.878C>G	ENSP00000513182.1:p.Pro293Arg
ENST00000697197.1:n.2819C>G
ENST00000228510.8:c.790C>G MANE Select	ENSP00000228510.3:p.Leu264Val
ENST00000636529.1:c.415C>G
ENST00000636996.1:c.638C>G
ENST00000228510.7:c.790C>G	ENSP00000228510.3:p.Leu264Val
ENST00000392727.7:c.634C>G	ENSP00000376487.3:p.Leu212Val
ENST00000447878.6:c.*237C>G	ENSP00000415555.2:n.*237C>G
ENST00000537237.5:c.*463C>G	ENSP00000445382.1:n.*463C>G
ENST00000539575.4:c.790C>G	ENSP00000443551.2:p.Leu264Val
ENST00000539696.5:c.-54C>G	ENSP00000439134.1:n.-54C>G
ENST00000540353.1:n.3023C>G
ENST00000625889.2:c.634C>G	ENSP00000486846.1:p.Leu212Val
ENST00000629016.2:c.*237C>G	ENSP00000486804.1:n.*237C>G
NM_000431.3:c.790C>G	NP_000422.1:p.Leu264Val
NM_001114185.2:c.790C>G	NP_001107657.1:p.Leu264Val
NM_001301182.1:c.634C>G	NP_001288111.1:p.Leu212Val
XM_011538372.1:c.790C>G	XP_011536674.1:p.Leu264Val
XM_017019313.2:c.634C>G	XP_016874802.1:p.Leu212Val
XM_017019314.1:c.790C>G	XP_016874803.1:p.Leu264Val
XM_024448982.1:c.790C>G	XP_024304750.1:p.Leu264Val
NM_000431.4:c.790C>G MANE Select	NP_000422.1:p.Leu264Val
NM_001114185.3:c.790C>G	NP_001107657.1:p.Leu264Val
NM_001301182.2:c.634C>G	NP_001288111.1:p.Leu212Val