Canonical Allele Identifier: CA6779280
Gene: MVK HGNC NCBI

Linked Data

ClinVar Variation Id: 307097
dbSNP Id: rs199670546

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109581563C>A , CM000674.2:g.109581563C>A GRCh38
NC_000012.11:g.110019368C>A , CM000674.1:g.110019368C>A GRCh37
NC_000012.10:g.108503751C>A NCBI36
NG_007702.1:g.12869C>A , LRG_156:g.12869C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000539696.6:c.-92+7690C>A ENSP00000439134.1:n.-92+7690C>A
ENST00000546277.6:c.527+13C>A ENSP00000438153.2:n.527+13C>A
ENST00000636529.2:n.79-4459C>A
ENST00000697195.1:c.*291+13C>A ENSP00000513181.1:n.*291+13C>A
ENST00000697196.1:c.527+13C>A ENSP00000513182.1:n.527+13C>A
ENST00000228510.8:c.527+13C>A MANE Select ENSP00000228510.3:n.527+13C>A
ENST00000636529.1:c.65-4459C>A
ENST00000636996.1:c.375+13C>A
ENST00000228510.7:c.527+13C>A ENSP00000228510.3:n.527+13C>A
ENST00000392727.7:c.371+1617C>A ENSP00000376487.3:n.371+1617C>A
ENST00000447878.6:c.227-4459C>A ENSP00000415555.2:n.227-4459C>A
ENST00000535044.1:n.472-4459C>A
ENST00000537237.5:c.*291+13C>A ENSP00000445382.1:n.*291+13C>A
ENST00000539575.4:c.527+13C>A ENSP00000443551.2:n.527+13C>A
ENST00000539696.5:c.-92+7690C>A ENSP00000439134.1:n.-92+7690C>A
ENST00000545516.1:n.72+13C>A
ENST00000545774.5:c.227-4459C>A ENSP00000443978.1:n.227-4459C>A
ENST00000546277.5:c.527+13C>A ENSP00000438153.1:n.527+13C>A
ENST00000625889.2:c.371+1617C>A ENSP00000486846.1:n.371+1617C>A
ENST00000629016.2:c.227-4459C>A ENSP00000486804.1:n.227-4459C>A
NM_000431.3:c.527+13C>A NP_000422.1:n.527+13C>A
NM_001114185.2:c.527+13C>A NP_001107657.1:n.527+13C>A
NM_001301182.1:c.371+1617C>A NP_001288111.1:n.371+1617C>A
XM_011538372.1:c.527+13C>A XP_011536674.1:n.527+13C>A
XM_017019313.2:c.371+1617C>A XP_016874802.1:n.371+1617C>A
XM_017019314.1:c.527+13C>A XP_016874803.1:n.527+13C>A
XM_024448982.1:c.527+13C>A XP_024304750.1:n.527+13C>A
NM_000431.4:c.527+13C>A MANE Select NP_000422.1:n.527+13C>A
NM_001114185.3:c.527+13C>A NP_001107657.1:n.527+13C>A
NM_001301182.2:c.371+1617C>A NP_001288111.1:n.371+1617C>A