Canonical Allele Identifier: CA149781

Gene: MVK

Linked Data

• ClinVar Variation Id: 97567
• ClinVar RCV Id: RCV000083819
• dbSNP Id: rs104895340
• gnomAD v4: 12-109596513-G-T
• MyVariant Identifiers: chr12:g.110034318G>T (hg19) ; chr12:g.109596513G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596513G>T , CM000674.2:g.109596513G>T	GRCh38
NC_000012.11:g.110034318G>T , CM000674.1:g.110034318G>T	GRCh37
NC_000012.10:g.108518701G>T	NCBI36
NG_007702.1:g.27819G>T , LRG_156:g.27819G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.284G>T	ENSP00000439134.1:p.Gly95Val
ENST00000546277.6:c.1127G>T	ENSP00000438153.2:p.Gly376Val
ENST00000636529.2:n.766G>T
ENST00000697195.1:c.*891G>T	ENSP00000513181.1:n.*891G>T
ENST00000697196.1:c.*300G>T	ENSP00000513182.1:n.*300G>T
ENST00000697197.1:n.3156G>T
ENST00000697198.1:n.1511G>T
ENST00000228510.8:c.1127G>T MANE Select	ENSP00000228510.3:p.Gly376Val
ENST00000636529.1:c.752G>T
ENST00000636996.1:c.975G>T
ENST00000228510.7:c.1127G>T	ENSP00000228510.3:p.Gly376Val
ENST00000392727.7:c.971G>T	ENSP00000376487.3:p.Gly324Val
ENST00000447878.6:c.*574G>T	ENSP00000415555.2:n.*574G>T
ENST00000537237.5:c.*800G>T	ENSP00000445382.1:n.*800G>T
ENST00000539575.4:c.1127G>T	ENSP00000443551.2:p.Gly376Val
ENST00000539696.5:c.284G>T	ENSP00000439134.1:p.Gly95Val
ENST00000540353.1:n.3360G>T
ENST00000625889.2:c.971G>T	ENSP00000486846.1:p.Gly324Val
ENST00000629016.2:c.*574G>T	ENSP00000486804.1:n.*574G>T
NM_000431.3:c.1127G>T	NP_000422.1:p.Gly376Val
NM_001114185.2:c.1127G>T	NP_001107657.1:p.Gly376Val
NM_001301182.1:c.971G>T	NP_001288111.1:p.Gly324Val
XM_011538372.1:c.1127G>T	XP_011536674.1:p.Gly376Val
XM_017019313.2:c.971G>T	XP_016874802.1:p.Gly324Val
XM_017019314.1:c.1127G>T	XP_016874803.1:p.Gly376Val
NM_000431.4:c.1127G>T MANE Select	NP_000422.1:p.Gly376Val
NM_001114185.3:c.1127G>T	NP_001107657.1:p.Gly376Val
NM_001301182.2:c.971G>T	NP_001288111.1:p.Gly324Val