Canonical Allele Identifier: CA683459675

Gene: MVK

Linked Data

• dbSNP Id: rs1425582625
• gnomAD v3: 12-109596722-C-G
• gnomAD v4: 12-109596722-C-G
• MyVariant Identifiers: chr12:g.110034527C>G (hg19) ; chr12:g.109596722C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596722C>G , CM000674.2:g.109596722C>G	GRCh38
NC_000012.11:g.110034527C>G , CM000674.1:g.110034527C>G	GRCh37
NC_000012.10:g.108518910C>G	NCBI36
NG_007702.1:g.28028C>G , LRG_156:g.28028C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.*145C>G	ENSP00000439134.1:n.*145C>G
ENST00000546277.6:c.*145C>G	ENSP00000438153.2:n.*145C>G
ENST00000636529.2:n.975C>G
ENST00000697195.1:c.*1100C>G	ENSP00000513181.1:n.*1100C>G
ENST00000697196.1:c.*509C>G	ENSP00000513182.1:n.*509C>G
ENST00000697197.1:n.3365C>G
ENST00000697198.1:n.1720C>G
ENST00000228510.8:c.*145C>G MANE Select	ENSP00000228510.3:n.*145C>G
ENST00000636529.1:c.961C>G
ENST00000636996.1:c.1184C>G
ENST00000228510.7:c.*145C>G	ENSP00000228510.3:n.*145C>G
ENST00000392727.7:c.*145C>G	ENSP00000376487.3:n.*145C>G
ENST00000447878.6:c.*783C>G	ENSP00000415555.2:n.*783C>G
ENST00000539575.4:c.*145C>G	ENSP00000443551.2:n.*145C>G
ENST00000540353.1:n.3569C>G
ENST00000625889.2:c.*145C>G	ENSP00000486846.1:n.*145C>G
ENST00000629016.2:c.*783C>G	ENSP00000486804.1:n.*783C>G
NM_000431.3:c.*145C>G	NP_000422.1:n.*145C>G
NM_001114185.2:c.*145C>G	NP_001107657.1:n.*145C>G
NM_001301182.1:c.*145C>G	NP_001288111.1:n.*145C>G
XM_011538372.1:c.*145C>G	XP_011536674.1:n.*145C>G
XM_017019313.2:c.*145C>G	XP_016874802.1:n.*145C>G
XM_017019314.1:c.*145C>G	XP_016874803.1:n.*145C>G
NM_000431.4:c.*145C>G MANE Select	NP_000422.1:n.*145C>G
NM_001114185.3:c.*145C>G	NP_001107657.1:n.*145C>G
NM_001301182.2:c.*145C>G	NP_001288111.1:n.*145C>G