Canonical Allele Identifier: CA2062438747

Gene: MVK

Linked Data

• dbSNP Id: rs112122353

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109586582G>T , CM000674.2:g.109586582G>T	GRCh38
NC_000012.11:g.110024387G>T , CM000674.1:g.110024387G>T	GRCh37
NC_000012.10:g.108508770G>T	NCBI36
NG_007702.1:g.17888G>T , LRG_156:g.17888G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4264G>T	ENSP00000439134.1:n.-91-4264G>T
ENST00000546277.6:c.632-172G>T	ENSP00000438153.2:n.632-172G>T
ENST00000636529.2:n.183-172G>T
ENST00000697195.1:c.*396-172G>T	ENSP00000513181.1:n.*396-172G>T
ENST00000697196.1:c.632-172G>T	ENSP00000513182.1:n.632-172G>T
ENST00000228510.8:c.632-172G>T MANE Select	ENSP00000228510.3:n.632-172G>T
ENST00000636529.1:c.169-172G>T
ENST00000636996.1:c.480-172G>T
ENST00000228510.7:c.632-172G>T	ENSP00000228510.3:n.632-172G>T
ENST00000392727.7:c.476-172G>T	ENSP00000376487.3:n.476-172G>T
ENST00000447878.6:c.*79-172G>T	ENSP00000415555.2:n.*79-172G>T
ENST00000537237.5:c.*396-172G>T	ENSP00000445382.1:n.*396-172G>T
ENST00000539575.4:c.632-172G>T	ENSP00000443551.2:n.632-172G>T
ENST00000539696.5:c.-91-4264G>T	ENSP00000439134.1:n.-91-4264G>T
ENST00000545516.1:n.177-172G>T
ENST00000545774.5:c.*79-172G>T	ENSP00000443978.1:n.*79-172G>T
ENST00000625889.2:c.476-172G>T	ENSP00000486846.1:n.476-172G>T
ENST00000629016.2:c.*79-172G>T	ENSP00000486804.1:n.*79-172G>T
NM_000431.3:c.632-172G>T	NP_000422.1:n.632-172G>T
NM_001114185.2:c.632-172G>T	NP_001107657.1:n.632-172G>T
NM_001301182.1:c.476-172G>T	NP_001288111.1:n.476-172G>T
XM_011538372.1:c.632-172G>T	XP_011536674.1:n.632-172G>T
XM_017019313.2:c.476-172G>T	XP_016874802.1:n.476-172G>T
XM_017019314.1:c.632-172G>T	XP_016874803.1:n.632-172G>T
XM_024448982.1:c.632-172G>T	XP_024304750.1:n.632-172G>T
NM_000431.4:c.632-172G>T MANE Select	NP_000422.1:n.632-172G>T
NM_001114185.3:c.632-172G>T	NP_001107657.1:n.632-172G>T
NM_001301182.2:c.476-172G>T	NP_001288111.1:n.476-172G>T