Canonical Allele Identifier: CA2062444172

Gene: MVK

Linked Data

• dbSNP Id: rs1885659922
• gnomAD v4: 12-109591169-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591169C>A , CM000674.2:g.109591169C>A	GRCh38
NC_000012.11:g.110028974C>A , CM000674.1:g.110028974C>A	GRCh37
NC_000012.10:g.108513357C>A	NCBI36
NG_007702.1:g.22475C>A , LRG_156:g.22475C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-75-72C>A	ENSP00000439134.1:n.-75-72C>A
ENST00000546277.6:c.769-72C>A	ENSP00000438153.2:n.769-72C>A
ENST00000636529.2:n.408-72C>A
ENST00000697195.1:c.*533-72C>A	ENSP00000513181.1:n.*533-72C>A
ENST00000697196.1:c.857-72C>A	ENSP00000513182.1:n.857-72C>A
ENST00000697197.1:n.2726C>A
ENST00000228510.8:c.769-72C>A MANE Select	ENSP00000228510.3:n.769-72C>A
ENST00000636529.1:c.394-72C>A
ENST00000636996.1:c.617-72C>A
ENST00000228510.7:c.769-72C>A	ENSP00000228510.3:n.769-72C>A
ENST00000392727.7:c.613-72C>A	ENSP00000376487.3:n.613-72C>A
ENST00000447878.6:c.*216-72C>A	ENSP00000415555.2:n.*216-72C>A
ENST00000537237.5:c.*442-72C>A	ENSP00000445382.1:n.*442-72C>A
ENST00000539575.4:c.769-72C>A	ENSP00000443551.2:n.769-72C>A
ENST00000539696.5:c.-75-72C>A	ENSP00000439134.1:n.-75-72C>A
ENST00000540353.1:n.3002-72C>A
ENST00000625889.2:c.613-72C>A	ENSP00000486846.1:n.613-72C>A
ENST00000629016.2:c.*216-72C>A	ENSP00000486804.1:n.*216-72C>A
NM_000431.3:c.769-72C>A	NP_000422.1:n.769-72C>A
NM_001114185.2:c.769-72C>A	NP_001107657.1:n.769-72C>A
NM_001301182.1:c.613-72C>A	NP_001288111.1:n.613-72C>A
XM_011538372.1:c.769-72C>A	XP_011536674.1:n.769-72C>A
XM_017019313.2:c.613-72C>A	XP_016874802.1:n.613-72C>A
XM_017019314.1:c.769-72C>A	XP_016874803.1:n.769-72C>A
XM_024448982.1:c.769-72C>A	XP_024304750.1:n.769-72C>A
NM_000431.4:c.769-72C>A MANE Select	NP_000422.1:n.769-72C>A
NM_001114185.3:c.769-72C>A	NP_001107657.1:n.769-72C>A
NM_001301182.2:c.613-72C>A	NP_001288111.1:n.613-72C>A