Canonical Allele Identifier: CA481715256

Gene: MVK

Linked Data

• ClinVar Variation Id: 493122
• ClinVar RCV Id: RCV003767319
• dbSNP Id: rs1212639017
• gnomAD v4: 12-109595078-C-T
• MyVariant Identifiers: chr12:g.110032883C>T (hg19) ; chr12:g.109595078C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595078C>T , CM000674.2:g.109595078C>T	GRCh38
NC_000012.11:g.110032883C>T , CM000674.1:g.110032883C>T	GRCh37
NC_000012.10:g.108517266C>T	NCBI36
NG_007702.1:g.26384C>T , LRG_156:g.26384C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.93C>T	ENSP00000439134.1:p.His31=
ENST00000546277.6:c.936C>T	ENSP00000438153.2:p.His312=
ENST00000636529.2:n.575C>T
ENST00000697195.1:c.*700C>T	ENSP00000513181.1:n.*700C>T
ENST00000697196.1:c.*109C>T	ENSP00000513182.1:n.*109C>T
ENST00000697197.1:n.2965C>T
ENST00000697198.1:n.1320C>T
ENST00000228510.8:c.936C>T MANE Select	ENSP00000228510.3:p.His312=
ENST00000636529.1:c.561C>T
ENST00000636996.1:c.784C>T
ENST00000228510.7:c.936C>T	ENSP00000228510.3:p.His312=
ENST00000392727.7:c.780C>T	ENSP00000376487.3:p.His260=
ENST00000447878.6:c.*383C>T	ENSP00000415555.2:n.*383C>T
ENST00000537237.5:c.*609C>T	ENSP00000445382.1:n.*609C>T
ENST00000539575.4:c.936C>T	ENSP00000443551.2:p.His312=
ENST00000539696.5:c.93C>T	ENSP00000439134.1:p.His31=
ENST00000540353.1:n.3169C>T
ENST00000625889.2:c.780C>T	ENSP00000486846.1:p.His260=
ENST00000629016.2:c.*383C>T	ENSP00000486804.1:n.*383C>T
NM_000431.3:c.936C>T	NP_000422.1:p.His312=
NM_001114185.2:c.936C>T	NP_001107657.1:p.His312=
NM_001301182.1:c.780C>T	NP_001288111.1:p.His260=
XM_011538372.1:c.936C>T	XP_011536674.1:p.His312=
XM_017019313.2:c.780C>T	XP_016874802.1:p.His260=
XM_017019314.1:c.936C>T	XP_016874803.1:p.His312=
NM_000431.4:c.936C>T MANE Select	NP_000422.1:p.His312=
NM_001114185.3:c.936C>T	NP_001107657.1:p.His312=
NM_001301182.2:c.780C>T	NP_001288111.1:p.His260=