Canonical Allele Identifier: CA386650435

Gene: MVK

Linked Data

• gnomAD v4: 12-109595060-T-A
• MyVariant Identifiers: chr12:g.110032865T>A (hg19) ; chr12:g.109595060T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595060T>A , CM000674.2:g.109595060T>A	GRCh38
NC_000012.11:g.110032865T>A , CM000674.1:g.110032865T>A	GRCh37
NC_000012.10:g.108517248T>A	NCBI36
NG_007702.1:g.26366T>A , LRG_156:g.26366T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.75T>A	ENSP00000439134.1:p.Asn25Lys
ENST00000546277.6:c.918T>A	ENSP00000438153.2:p.Asn306Lys
ENST00000636529.2:n.557T>A
ENST00000697195.1:c.*682T>A	ENSP00000513181.1:n.*682T>A
ENST00000697196.1:c.*91T>A	ENSP00000513182.1:n.*91T>A
ENST00000697197.1:n.2947T>A
ENST00000697198.1:n.1302T>A
ENST00000228510.8:c.918T>A MANE Select	ENSP00000228510.3:p.Asn306Lys
ENST00000636529.1:c.543T>A
ENST00000636996.1:c.766T>A
ENST00000228510.7:c.918T>A	ENSP00000228510.3:p.Asn306Lys
ENST00000392727.7:c.762T>A	ENSP00000376487.3:p.Asn254Lys
ENST00000447878.6:c.*365T>A	ENSP00000415555.2:n.*365T>A
ENST00000537237.5:c.*591T>A	ENSP00000445382.1:n.*591T>A
ENST00000539575.4:c.918T>A	ENSP00000443551.2:p.Asn306Lys
ENST00000539696.5:c.75T>A	ENSP00000439134.1:p.Asn25Lys
ENST00000540353.1:n.3151T>A
ENST00000625889.2:c.762T>A	ENSP00000486846.1:p.Asn254Lys
ENST00000629016.2:c.*365T>A	ENSP00000486804.1:n.*365T>A
NM_000431.3:c.918T>A	NP_000422.1:p.Asn306Lys
NM_001114185.2:c.918T>A	NP_001107657.1:p.Asn306Lys
NM_001301182.1:c.762T>A	NP_001288111.1:p.Asn254Lys
XM_011538372.1:c.918T>A	XP_011536674.1:p.Asn306Lys
XM_017019313.2:c.762T>A	XP_016874802.1:p.Asn254Lys
XM_017019314.1:c.918T>A	XP_016874803.1:p.Asn306Lys
NM_000431.4:c.918T>A MANE Select	NP_000422.1:p.Asn306Lys
NM_001114185.3:c.918T>A	NP_001107657.1:p.Asn306Lys
NM_001301182.2:c.762T>A	NP_001288111.1:p.Asn254Lys