Canonical Allele Identifier: CA481714877

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110029069C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591264C>A , CM000674.2:g.109591264C>A	GRCh38
NC_000012.11:g.110029069C>A , CM000674.1:g.110029069C>A	GRCh37
NC_000012.10:g.108513452C>A	NCBI36
NG_007702.1:g.22570C>A , LRG_156:g.22570C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-52C>A	ENSP00000439134.1:n.-52C>A
ENST00000546277.6:c.792C>A	ENSP00000438153.2:p.Leu264=
ENST00000636529.2:n.431C>A
ENST00000697195.1:c.*556C>A	ENSP00000513181.1:n.*556C>A
ENST00000697196.1:c.880C>A	ENSP00000513182.1:p.Pro294Thr
ENST00000697197.1:n.2821C>A
ENST00000228510.8:c.792C>A MANE Select	ENSP00000228510.3:p.Leu264=
ENST00000636529.1:c.417C>A
ENST00000636996.1:c.640C>A
ENST00000228510.7:c.792C>A	ENSP00000228510.3:p.Leu264=
ENST00000392727.7:c.636C>A	ENSP00000376487.3:p.Leu212=
ENST00000447878.6:c.*239C>A	ENSP00000415555.2:n.*239C>A
ENST00000537237.5:c.*465C>A	ENSP00000445382.1:n.*465C>A
ENST00000539575.4:c.792C>A	ENSP00000443551.2:p.Leu264=
ENST00000539696.5:c.-52C>A	ENSP00000439134.1:n.-52C>A
ENST00000540353.1:n.3025C>A
ENST00000625889.2:c.636C>A	ENSP00000486846.1:p.Leu212=
ENST00000629016.2:c.*239C>A	ENSP00000486804.1:n.*239C>A
NM_000431.3:c.792C>A	NP_000422.1:p.Leu264=
NM_001114185.2:c.792C>A	NP_001107657.1:p.Leu264=
NM_001301182.1:c.636C>A	NP_001288111.1:p.Leu212=
XM_011538372.1:c.792C>A	XP_011536674.1:p.Leu264=
XM_017019313.2:c.636C>A	XP_016874802.1:p.Leu212=
XM_017019314.1:c.792C>A	XP_016874803.1:p.Leu264=
XM_024448982.1:c.792C>A	XP_024304750.1:p.Leu264=
NM_000431.4:c.792C>A MANE Select	NP_000422.1:p.Leu264=
NM_001114185.3:c.792C>A	NP_001107657.1:p.Leu264=
NM_001301182.2:c.636C>A	NP_001288111.1:p.Leu212=