Canonical Allele Identifier: CA208417

Gene: MVK

Linked Data

• ClinVar Variation Id: 193585
• ClinVar RCV Id: RCV000194317 ; RCV000724566 ; RCV001085707 ; RCV001110867 ; RCV001110868 ; RCV002262765
• dbSNP Id: rs72648042
• ExAC: 12:110032871 C / T
• gnomAD v2: 12-110032871-C-T
• gnomAD v3: 12-109595066-C-T
• gnomAD v4: 12-109595066-C-T
• MyVariant Identifiers: chr12:g.110032871C>T (hg19) ; chr12:g.109595066C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595066C>T , CM000674.2:g.109595066C>T	GRCh38
NC_000012.11:g.110032871C>T , CM000674.1:g.110032871C>T	GRCh37
NC_000012.10:g.108517254C>T	NCBI36
NG_007702.1:g.26372C>T , LRG_156:g.26372C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.81C>T	ENSP00000439134.1:p.Leu27=
ENST00000546277.6:c.924C>T	ENSP00000438153.2:p.Leu308=
ENST00000636529.2:n.563C>T
ENST00000697195.1:c.*688C>T	ENSP00000513181.1:n.*688C>T
ENST00000697196.1:c.*97C>T	ENSP00000513182.1:n.*97C>T
ENST00000697197.1:n.2953C>T
ENST00000697198.1:n.1308C>T
ENST00000228510.8:c.924C>T MANE Select	ENSP00000228510.3:p.Leu308=
ENST00000636529.1:c.549C>T
ENST00000636996.1:c.772C>T
ENST00000228510.7:c.924C>T	ENSP00000228510.3:p.Leu308=
ENST00000392727.7:c.768C>T	ENSP00000376487.3:p.Leu256=
ENST00000447878.6:c.*371C>T	ENSP00000415555.2:n.*371C>T
ENST00000537237.5:c.*597C>T	ENSP00000445382.1:n.*597C>T
ENST00000539575.4:c.924C>T	ENSP00000443551.2:p.Leu308=
ENST00000539696.5:c.81C>T	ENSP00000439134.1:p.Leu27=
ENST00000540353.1:n.3157C>T
ENST00000625889.2:c.768C>T	ENSP00000486846.1:p.Leu256=
ENST00000629016.2:c.*371C>T	ENSP00000486804.1:n.*371C>T
NM_000431.3:c.924C>T	NP_000422.1:p.Leu308=
NM_001114185.2:c.924C>T	NP_001107657.1:p.Leu308=
NM_001301182.1:c.768C>T	NP_001288111.1:p.Leu256=
XM_011538372.1:c.924C>T	XP_011536674.1:p.Leu308=
XM_017019313.2:c.768C>T	XP_016874802.1:p.Leu256=
XM_017019314.1:c.924C>T	XP_016874803.1:p.Leu308=
NM_000431.4:c.924C>T MANE Select	NP_000422.1:p.Leu308=
NM_001114185.3:c.924C>T	NP_001107657.1:p.Leu308=
NM_001301182.2:c.768C>T	NP_001288111.1:p.Leu256=