Canonical Allele Identifier: CA2062473076
Gene: MVK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109596422G= , CM000674.2:g.109596422G= GRCh38
NC_000012.11:g.110034227G= , CM000674.1:g.110034227G= GRCh37
NC_000012.10:g.108518610G= NCBI36
NG_007702.1:g.27728G= , LRG_156:g.27728G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000539696.6:c.197-4G= ENSP00000439134.1:n.197-4G=
ENST00000546277.6:c.1040-4G= ENSP00000438153.2:n.1040-4G=
ENST00000636529.2:n.679-4G=
ENST00000697195.1:c.*804-4G= ENSP00000513181.1:n.*804-4G=
ENST00000697196.1:c.*213-4G= ENSP00000513182.1:n.*213-4G=
ENST00000697197.1:n.3069-4G=
ENST00000697198.1:n.1424-4G=
ENST00000228510.8:c.1040-4G= MANE Select ENSP00000228510.3:n.1040-4G=
ENST00000636529.1:c.665-4G=
ENST00000636996.1:c.888-4G=
ENST00000228510.7:c.1040-4G= ENSP00000228510.3:n.1040-4G=
ENST00000392727.7:c.884-4G= ENSP00000376487.3:n.884-4G=
ENST00000447878.6:c.*487-4G= ENSP00000415555.2:n.*487-4G=
ENST00000537237.5:c.*713-4G= ENSP00000445382.1:n.*713-4G=
ENST00000539575.4:c.1040-4G= ENSP00000443551.2:n.1040-4G=
ENST00000539696.5:c.197-4G= ENSP00000439134.1:n.197-4G=
ENST00000540353.1:n.3273-4G=
ENST00000625889.2:c.884-4G= ENSP00000486846.1:n.884-4G=
ENST00000629016.2:c.*487-4G= ENSP00000486804.1:n.*487-4G=
NM_000431.3:c.1040-4G= NP_000422.1:n.1040-4G=
NM_001114185.2:c.1040-4G= NP_001107657.1:n.1040-4G=
NM_001301182.1:c.884-4G= NP_001288111.1:n.884-4G=
XM_011538372.1:c.1040-4G= XP_011536674.1:n.1040-4G=
XM_017019313.2:c.884-4G= XP_016874802.1:n.884-4G=
XM_017019314.1:c.1040-4G= XP_016874803.1:n.1040-4G=
NM_000431.4:c.1040-4G= MANE Select NP_000422.1:n.1040-4G=
NM_001114185.3:c.1040-4G= NP_001107657.1:n.1040-4G=
NM_001301182.2:c.884-4G= NP_001288111.1:n.884-4G=