Canonical Allele Identifier: CA6779447

Gene: MVK

Linked Data

• ClinVar Variation Id: 2035998
• ClinVar RCV Id: RCV002894631
• dbSNP Id: rs530884983
• ExAC: 12:110034233 C / T
• gnomAD v2: 12-110034233-C-T
• gnomAD v3: 12-109596428-C-T
• gnomAD v4: 12-109596428-C-T
• MyVariant Identifiers: chr12:g.110034233C>T (hg19) ; chr12:g.109596428C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596428C>T , CM000674.2:g.109596428C>T	GRCh38
NC_000012.11:g.110034233C>T , CM000674.1:g.110034233C>T	GRCh37
NC_000012.10:g.108518616C>T	NCBI36
NG_007702.1:g.27734C>T , LRG_156:g.27734C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.199C>T	ENSP00000439134.1:p.Leu67=
ENST00000546277.6:c.1042C>T	ENSP00000438153.2:p.Leu348=
ENST00000636529.2:n.681C>T
ENST00000697195.1:c.*806C>T	ENSP00000513181.1:n.*806C>T
ENST00000697196.1:c.*215C>T	ENSP00000513182.1:n.*215C>T
ENST00000697197.1:n.3071C>T
ENST00000697198.1:n.1426C>T
ENST00000228510.8:c.1042C>T MANE Select	ENSP00000228510.3:p.Leu348=
ENST00000636529.1:c.667C>T
ENST00000636996.1:c.890C>T
ENST00000228510.7:c.1042C>T	ENSP00000228510.3:p.Leu348=
ENST00000392727.7:c.886C>T	ENSP00000376487.3:p.Leu296=
ENST00000447878.6:c.*489C>T	ENSP00000415555.2:n.*489C>T
ENST00000537237.5:c.*715C>T	ENSP00000445382.1:n.*715C>T
ENST00000539575.4:c.1042C>T	ENSP00000443551.2:p.Leu348=
ENST00000539696.5:c.199C>T	ENSP00000439134.1:p.Leu67=
ENST00000540353.1:n.3275C>T
ENST00000625889.2:c.886C>T	ENSP00000486846.1:p.Leu296=
ENST00000629016.2:c.*489C>T	ENSP00000486804.1:n.*489C>T
NM_000431.3:c.1042C>T	NP_000422.1:p.Leu348=
NM_001114185.2:c.1042C>T	NP_001107657.1:p.Leu348=
NM_001301182.1:c.886C>T	NP_001288111.1:p.Leu296=
XM_011538372.1:c.1042C>T	XP_011536674.1:p.Leu348=
XM_017019313.2:c.886C>T	XP_016874802.1:p.Leu296=
XM_017019314.1:c.1042C>T	XP_016874803.1:p.Leu348=
NM_000431.4:c.1042C>T MANE Select	NP_000422.1:p.Leu348=
NM_001114185.3:c.1042C>T	NP_001107657.1:p.Leu348=
NM_001301182.2:c.886C>T	NP_001288111.1:p.Leu296=