Canonical Allele Identifier: CA481715480

Gene: MVK

Linked Data

• gnomAD v4: 12-109596511-C-G
• MyVariant Identifiers: chr12:g.110034316C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596511C>G , CM000674.2:g.109596511C>G	GRCh38
NC_000012.11:g.110034316C>G , CM000674.1:g.110034316C>G	GRCh37
NC_000012.10:g.108518699C>G	NCBI36
NG_007702.1:g.27817C>G , LRG_156:g.27817C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.282C>G	ENSP00000439134.1:p.Pro94=
ENST00000546277.6:c.1125C>G	ENSP00000438153.2:p.Pro375=
ENST00000636529.2:n.764C>G
ENST00000697195.1:c.*889C>G	ENSP00000513181.1:n.*889C>G
ENST00000697196.1:c.*298C>G	ENSP00000513182.1:n.*298C>G
ENST00000697197.1:n.3154C>G
ENST00000697198.1:n.1509C>G
ENST00000228510.8:c.1125C>G MANE Select	ENSP00000228510.3:p.Pro375=
ENST00000636529.1:c.750C>G
ENST00000636996.1:c.973C>G
ENST00000228510.7:c.1125C>G	ENSP00000228510.3:p.Pro375=
ENST00000392727.7:c.969C>G	ENSP00000376487.3:p.Pro323=
ENST00000447878.6:c.*572C>G	ENSP00000415555.2:n.*572C>G
ENST00000537237.5:c.*798C>G	ENSP00000445382.1:n.*798C>G
ENST00000539575.4:c.1125C>G	ENSP00000443551.2:p.Pro375=
ENST00000539696.5:c.282C>G	ENSP00000439134.1:p.Pro94=
ENST00000540353.1:n.3358C>G
ENST00000625889.2:c.969C>G	ENSP00000486846.1:p.Pro323=
ENST00000629016.2:c.*572C>G	ENSP00000486804.1:n.*572C>G
NM_000431.3:c.1125C>G	NP_000422.1:p.Pro375=
NM_001114185.2:c.1125C>G	NP_001107657.1:p.Pro375=
NM_001301182.1:c.969C>G	NP_001288111.1:p.Pro323=
XM_011538372.1:c.1125C>G	XP_011536674.1:p.Pro375=
XM_017019313.2:c.969C>G	XP_016874802.1:p.Pro323=
XM_017019314.1:c.1125C>G	XP_016874803.1:p.Pro375=
NM_000431.4:c.1125C>G MANE Select	NP_000422.1:p.Pro375=
NM_001114185.3:c.1125C>G	NP_001107657.1:p.Pro375=
NM_001301182.2:c.969C>G	NP_001288111.1:p.Pro323=