Canonical Allele Identifier: CA149795
Gene: MVK HGNC NCBI

Linked Data

ClinVar Variation Id: 97572
dbSNP Id: rs104895360

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109596548C>T , CM000674.2:g.109596548C>T GRCh38
NC_000012.11:g.110034353C>T , CM000674.1:g.110034353C>T GRCh37
NC_000012.10:g.108518736C>T NCBI36
NG_007702.1:g.27854C>T , LRG_156:g.27854C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000539696.6:c.319C>T ENSP00000439134.1:p.Arg107Ter
ENST00000546277.6:c.1162C>T ENSP00000438153.2:p.Arg388Ter
ENST00000636529.2:n.801C>T
ENST00000697195.1:c.*926C>T ENSP00000513181.1:n.*926C>T
ENST00000697196.1:c.*335C>T ENSP00000513182.1:n.*335C>T
ENST00000697197.1:n.3191C>T
ENST00000697198.1:n.1546C>T
ENST00000228510.8:c.1162C>T MANE Select ENSP00000228510.3:p.Arg388Ter
ENST00000636529.1:c.787C>T
ENST00000636996.1:c.1010C>T
ENST00000228510.7:c.1162C>T ENSP00000228510.3:p.Arg388Ter
ENST00000392727.7:c.1006C>T ENSP00000376487.3:p.Arg336Ter
ENST00000447878.6:c.*609C>T ENSP00000415555.2:n.*609C>T
ENST00000537237.5:c.*835C>T ENSP00000445382.1:n.*835C>T
ENST00000539575.4:c.1162C>T ENSP00000443551.2:p.Arg388Ter
ENST00000539696.5:c.319C>T ENSP00000439134.1:p.Arg107Ter
ENST00000540353.1:n.3395C>T
ENST00000625889.2:c.1006C>T ENSP00000486846.1:p.Arg336Ter
ENST00000629016.2:c.*609C>T ENSP00000486804.1:n.*609C>T
NM_000431.3:c.1162C>T NP_000422.1:p.Arg388Ter
NM_001114185.2:c.1162C>T NP_001107657.1:p.Arg388Ter
NM_001301182.1:c.1006C>T NP_001288111.1:p.Arg336Ter
XM_011538372.1:c.1162C>T XP_011536674.1:p.Arg388Ter
XM_017019313.2:c.1006C>T XP_016874802.1:p.Arg336Ter
XM_017019314.1:c.1162C>T XP_016874803.1:p.Arg388Ter
NM_000431.4:c.1162C>T MANE Select NP_000422.1:p.Arg388Ter
NM_001114185.3:c.1162C>T NP_001107657.1:p.Arg388Ter
NM_001301182.2:c.1006C>T NP_001288111.1:p.Arg336Ter