Canonical Allele Identifier: CA386651443

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110034344C>A (hg19) ; chr12:g.109596539C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596539C>A , CM000674.2:g.109596539C>A	GRCh38
NC_000012.11:g.110034344C>A , CM000674.1:g.110034344C>A	GRCh37
NC_000012.10:g.108518727C>A	NCBI36
NG_007702.1:g.27845C>A , LRG_156:g.27845C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.310C>A	ENSP00000439134.1:p.Leu104Met
ENST00000546277.6:c.1153C>A	ENSP00000438153.2:p.Leu385Met
ENST00000636529.2:n.792C>A
ENST00000697195.1:c.*917C>A	ENSP00000513181.1:n.*917C>A
ENST00000697196.1:c.*326C>A	ENSP00000513182.1:n.*326C>A
ENST00000697197.1:n.3182C>A
ENST00000697198.1:n.1537C>A
ENST00000228510.8:c.1153C>A MANE Select	ENSP00000228510.3:p.Leu385Met
ENST00000636529.1:c.778C>A
ENST00000636996.1:c.1001C>A
ENST00000228510.7:c.1153C>A	ENSP00000228510.3:p.Leu385Met
ENST00000392727.7:c.997C>A	ENSP00000376487.3:p.Leu333Met
ENST00000447878.6:c.*600C>A	ENSP00000415555.2:n.*600C>A
ENST00000537237.5:c.*826C>A	ENSP00000445382.1:n.*826C>A
ENST00000539575.4:c.1153C>A	ENSP00000443551.2:p.Leu385Met
ENST00000539696.5:c.310C>A	ENSP00000439134.1:p.Leu104Met
ENST00000540353.1:n.3386C>A
ENST00000625889.2:c.997C>A	ENSP00000486846.1:p.Leu333Met
ENST00000629016.2:c.*600C>A	ENSP00000486804.1:n.*600C>A
NM_000431.3:c.1153C>A	NP_000422.1:p.Leu385Met
NM_001114185.2:c.1153C>A	NP_001107657.1:p.Leu385Met
NM_001301182.1:c.997C>A	NP_001288111.1:p.Leu333Met
XM_011538372.1:c.1153C>A	XP_011536674.1:p.Leu385Met
XM_017019313.2:c.997C>A	XP_016874802.1:p.Leu333Met
XM_017019314.1:c.1153C>A	XP_016874803.1:p.Leu385Met
NM_000431.4:c.1153C>A MANE Select	NP_000422.1:p.Leu385Met
NM_001114185.3:c.1153C>A	NP_001107657.1:p.Leu385Met
NM_001301182.2:c.997C>A	NP_001288111.1:p.Leu333Met