Canonical Allele Identifier: CA6779399
Gene: MVK HGNC NCBI

Linked Data

ClinVar Variation Id: 246330
dbSNP Id: rs370301290

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109591348C>T , CM000674.2:g.109591348C>T GRCh38
NC_000012.11:g.110029153C>T , CM000674.1:g.110029153C>T GRCh37
NC_000012.10:g.108513536C>T NCBI36
NG_007702.1:g.22654C>T , LRG_156:g.22654C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000228510.8:c.876C>T MANE Select ENSP00000228510.3:p.Leu292=
ENST00000636529.1:n.501C>T
ENST00000636996.1:n.724C>T
ENST00000228510.7:c.876C>T ENSP00000228510.3:p.Leu292=
ENST00000392727.7:c.720C>T ENSP00000376487.3:p.Leu240=
ENST00000447878.6:c.*323C>T ENSP00000415555.2:p.=
ENST00000537237.5:c.*549C>T ENSP00000445382.1:p.=
ENST00000539575.4:c.876C>T ENSP00000443551.2:p.Leu292=
ENST00000539696.5:c.33C>T ENSP00000439134.1:p.Leu11=
ENST00000540353.1:n.3109C>T
ENST00000625889.2:c.720C>T ENSP00000486846.1:p.Leu240=
ENST00000629016.2:c.*323C>T ENSP00000486804.1:p.=
NM_000431.3:c.876C>T NP_000422.1:p.Leu292=
NM_001114185.2:c.876C>T NP_001107657.1:p.Leu292=
NM_001301182.1:c.720C>T NP_001288111.1:p.Leu240=
XM_011538372.1:c.876C>T XP_011536674.1:p.Leu292=
XM_017019313.2:c.720C>T XP_016874802.1:p.Leu240=
XM_017019314.1:c.876C>T XP_016874803.1:p.Leu292=
XM_024448982.1:c.876C>T XP_024304750.1:p.Leu292=
NM_000431.4:c.876C>T MANE Select NP_000422.1:p.Leu292=
NM_001114185.3:c.876C>T NP_001107657.1:p.Leu292=
NM_001301182.2:c.720C>T NP_001288111.1:p.Leu240=