Canonical Allele Identifier: CA130488
Gene: MVK HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 39725
dbSNP Id: rs104895300

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109581523C>T , CM000674.2:g.109581523C>T GRCh38
NC_000012.11:g.110019328C>T , CM000674.1:g.110019328C>T GRCh37
NC_000012.10:g.108503711C>T NCBI36
NG_007702.1:g.12829C>T , LRG_156:g.12829C>T

Transcript Alleles

HGVS Amino-acid change
NM_000431.3:c.500C>T VV NP_000422.1:p.Pro167Leu
NM_001114185.2:c.500C>T VV NP_001107657.1:p.Pro167Leu
NM_001301182.1:c.371+1577C>T VV NP_001288111.1:p.=
XM_011538372.1:c.500C>T XP_011536674.1:p.Pro167Leu
XM_017019313.2:c.371+1577C>T XP_016874802.1:p.=
XM_017019314.1:c.500C>T XP_016874803.1:p.Pro167Leu
XM_024448982.1:c.500C>T XP_024304750.1:p.Pro167Leu
NM_000431.4:c.500C>T VV MANE Preferred NP_000422.1:p.Pro167Leu
ENST00000228510.7:c.500C>T ENSP00000228510.3:p.Pro167Leu
ENST00000392727.7:c.371+1577C>T ENSP00000376487.3:p.=
ENST00000447878.6:c.227-4499C>T ENSP00000415555.2:p.=
ENST00000535044.1:n.472-4499C>T
ENST00000537237.5:c.*264C>T ENSP00000445382.1:p.=
ENST00000539335.5:c.500C>T ENSP00000440379.1:p.Pro167Leu
ENST00000539575.4:c.500C>T ENSP00000443551.2:p.Pro167Leu
ENST00000539696.5:c.-92+7650C>T ENSP00000439134.1:p.=
ENST00000545516.1:n.45C>T
ENST00000545774.5:c.227-4499C>T ENSP00000443978.1:p.=
ENST00000546277.5:c.500C>T ENSP00000438153.1:p.Pro167Leu
ENST00000625889.2:c.371+1577C>T ENSP00000486846.1:p.=
ENST00000629016.2:c.227-4499C>T ENSP00000486804.1:p.=