Canonical Allele Identifier: CA149764

Gene: MVK

Linked Data

• ClinVar Variation Id: 97560
• ClinVar RCV Id: RCV000083812 ; RCV000606015 ; RCV000685302
• dbSNP Id: rs104895357
• ExAC: 12:110032952 C / T
• gnomAD v2: 12-110032952-C-T
• gnomAD v3: 12-109595147-C-T
• gnomAD v4: 12-109595147-C-T
• MyVariant Identifiers: chr12:g.110032952C>T (hg19) ; chr12:g.109595147C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595147C>T , CM000674.2:g.109595147C>T	GRCh38
NC_000012.11:g.110032952C>T , CM000674.1:g.110032952C>T	GRCh37
NC_000012.10:g.108517335C>T	NCBI36
NG_007702.1:g.26453C>T , LRG_156:g.26453C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.162C>T	ENSP00000439134.1:p.Gly54=
ENST00000546277.6:c.1005C>T	ENSP00000438153.2:p.Gly335=
ENST00000636529.2:n.644C>T
ENST00000697195.1:c.*769C>T	ENSP00000513181.1:n.*769C>T
ENST00000697196.1:c.*178C>T	ENSP00000513182.1:n.*178C>T
ENST00000697197.1:n.3034C>T
ENST00000697198.1:n.1389C>T
ENST00000228510.8:c.1005C>T MANE Select	ENSP00000228510.3:p.Gly335=
ENST00000636529.1:c.630C>T
ENST00000636996.1:c.853C>T
ENST00000228510.7:c.1005C>T	ENSP00000228510.3:p.Gly335=
ENST00000392727.7:c.849C>T	ENSP00000376487.3:p.Gly283=
ENST00000447878.6:c.*452C>T	ENSP00000415555.2:n.*452C>T
ENST00000537237.5:c.*678C>T	ENSP00000445382.1:n.*678C>T
ENST00000539575.4:c.1005C>T	ENSP00000443551.2:p.Gly335=
ENST00000539696.5:c.162C>T	ENSP00000439134.1:p.Gly54=
ENST00000540353.1:n.3238C>T
ENST00000625889.2:c.849C>T	ENSP00000486846.1:p.Gly283=
ENST00000629016.2:c.*452C>T	ENSP00000486804.1:n.*452C>T
NM_000431.3:c.1005C>T	NP_000422.1:p.Gly335=
NM_001114185.2:c.1005C>T	NP_001107657.1:p.Gly335=
NM_001301182.1:c.849C>T	NP_001288111.1:p.Gly283=
XM_011538372.1:c.1005C>T	XP_011536674.1:p.Gly335=
XM_017019313.2:c.849C>T	XP_016874802.1:p.Gly283=
XM_017019314.1:c.1005C>T	XP_016874803.1:p.Gly335=
NM_000431.4:c.1005C>T MANE Select	NP_000422.1:p.Gly335=
NM_001114185.3:c.1005C>T	NP_001107657.1:p.Gly335=
NM_001301182.2:c.849C>T	NP_001288111.1:p.Gly283=