Canonical Allele Identifier: CA149901
Gene: MVK HGNC NCBI

Linked Data

ClinVar Variation Id: 97626
ClinVar RCV Id: RCV000083878
dbSNP Id: rs104895316
MyVariant Identifiers: chr12:g.110029071T>C (hg19) chr12:g.109591266T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109591266T>C , CM000674.2:g.109591266T>C GRCh38
NC_000012.11:g.110029071T>C , CM000674.1:g.110029071T>C GRCh37
NC_000012.10:g.108513454T>C NCBI36
NG_007702.1:g.22572T>C , LRG_156:g.22572T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000539696.6:c.-50T>C ENSP00000439134.1:n.-50T>C
ENST00000546277.6:c.794T>C ENSP00000438153.2:p.Leu265Pro
ENST00000636529.2:n.433T>C
ENST00000697195.1:c.*558T>C ENSP00000513181.1:n.*558T>C
ENST00000697196.1:c.882T>C ENSP00000513182.1:p.Pro294=
ENST00000697197.1:n.2823T>C
ENST00000228510.8:c.794T>C MANE Select ENSP00000228510.3:p.Leu265Pro
ENST00000636529.1:c.419T>C
ENST00000636996.1:c.642T>C
ENST00000228510.7:c.794T>C ENSP00000228510.3:p.Leu265Pro
ENST00000392727.7:c.638T>C ENSP00000376487.3:p.Leu213Pro
ENST00000447878.6:c.*241T>C ENSP00000415555.2:n.*241T>C
ENST00000537237.5:c.*467T>C ENSP00000445382.1:n.*467T>C
ENST00000539575.4:c.794T>C ENSP00000443551.2:p.Leu265Pro
ENST00000539696.5:c.-50T>C ENSP00000439134.1:n.-50T>C
ENST00000540353.1:n.3027T>C
ENST00000625889.2:c.638T>C ENSP00000486846.1:p.Leu213Pro
ENST00000629016.2:c.*241T>C ENSP00000486804.1:n.*241T>C
NM_000431.3:c.794T>C NP_000422.1:p.Leu265Pro
NM_001114185.2:c.794T>C NP_001107657.1:p.Leu265Pro
NM_001301182.1:c.638T>C NP_001288111.1:p.Leu213Pro
XM_011538372.1:c.794T>C XP_011536674.1:p.Leu265Pro
XM_017019313.2:c.638T>C XP_016874802.1:p.Leu213Pro
XM_017019314.1:c.794T>C XP_016874803.1:p.Leu265Pro
XM_024448982.1:c.794T>C XP_024304750.1:p.Leu265Pro
NM_000431.4:c.794T>C MANE Select NP_000422.1:p.Leu265Pro
NM_001114185.3:c.794T>C NP_001107657.1:p.Leu265Pro
NM_001301182.2:c.638T>C NP_001288111.1:p.Leu213Pro
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