Canonical Allele Identifier: CA481715310

Gene: MVK

Linked Data

• ClinVar Variation Id: 2941499
• ClinVar RCV Id: RCV003795201
• MyVariant Identifiers: chr12:g.110032955T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595150T>C , CM000674.2:g.109595150T>C	GRCh38
NC_000012.11:g.110032955T>C , CM000674.1:g.110032955T>C	GRCh37
NC_000012.10:g.108517338T>C	NCBI36
NG_007702.1:g.26456T>C , LRG_156:g.26456T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.165T>C	ENSP00000439134.1:p.Gly55=
ENST00000546277.6:c.1008T>C	ENSP00000438153.2:p.Gly336=
ENST00000636529.2:n.647T>C
ENST00000697195.1:c.*772T>C	ENSP00000513181.1:n.*772T>C
ENST00000697196.1:c.*181T>C	ENSP00000513182.1:n.*181T>C
ENST00000697197.1:n.3037T>C
ENST00000697198.1:n.1392T>C
ENST00000228510.8:c.1008T>C MANE Select	ENSP00000228510.3:p.Gly336=
ENST00000636529.1:c.633T>C
ENST00000636996.1:c.856T>C
ENST00000228510.7:c.1008T>C	ENSP00000228510.3:p.Gly336=
ENST00000392727.7:c.852T>C	ENSP00000376487.3:p.Gly284=
ENST00000447878.6:c.*455T>C	ENSP00000415555.2:n.*455T>C
ENST00000537237.5:c.*681T>C	ENSP00000445382.1:n.*681T>C
ENST00000539575.4:c.1008T>C	ENSP00000443551.2:p.Gly336=
ENST00000539696.5:c.165T>C	ENSP00000439134.1:p.Gly55=
ENST00000540353.1:n.3241T>C
ENST00000625889.2:c.852T>C	ENSP00000486846.1:p.Gly284=
ENST00000629016.2:c.*455T>C	ENSP00000486804.1:n.*455T>C
NM_000431.3:c.1008T>C	NP_000422.1:p.Gly336=
NM_001114185.2:c.1008T>C	NP_001107657.1:p.Gly336=
NM_001301182.1:c.852T>C	NP_001288111.1:p.Gly284=
XM_011538372.1:c.1008T>C	XP_011536674.1:p.Gly336=
XM_017019313.2:c.852T>C	XP_016874802.1:p.Gly284=
XM_017019314.1:c.1008T>C	XP_016874803.1:p.Gly336=
NM_000431.4:c.1008T>C MANE Select	NP_000422.1:p.Gly336=
NM_001114185.3:c.1008T>C	NP_001107657.1:p.Gly336=
NM_001301182.2:c.852T>C	NP_001288111.1:p.Gly284=