Canonical Allele Identifier: CA386649097

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110028643G>A (hg19) ; chr12:g.109590838G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109590838G>A , CM000674.2:g.109590838G>A	GRCh38
NC_000012.11:g.110028643G>A , CM000674.1:g.110028643G>A	GRCh37
NC_000012.10:g.108513026G>A	NCBI36
NG_007702.1:g.22144G>A , LRG_156:g.22144G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-8G>A	ENSP00000439134.1:n.-91-8G>A
ENST00000546277.6:c.745G>A	ENSP00000438153.2:p.Gly249Ser
ENST00000636529.2:n.384G>A
ENST00000697195.1:c.*509G>A	ENSP00000513181.1:n.*509G>A
ENST00000697196.1:c.833G>A	ENSP00000513182.1:p.Trp278Ter
ENST00000697197.1:n.2395G>A
ENST00000228510.8:c.745G>A MANE Select	ENSP00000228510.3:p.Gly249Ser
ENST00000636529.1:c.370G>A
ENST00000636996.1:c.593G>A
ENST00000228510.7:c.745G>A	ENSP00000228510.3:p.Gly249Ser
ENST00000392727.7:c.589G>A	ENSP00000376487.3:p.Gly197Ser
ENST00000447878.6:c.*192G>A	ENSP00000415555.2:n.*192G>A
ENST00000537237.5:c.*442-403G>A	ENSP00000445382.1:n.*442-403G>A
ENST00000539575.4:c.745G>A	ENSP00000443551.2:p.Gly249Ser
ENST00000539696.5:c.-91-8G>A	ENSP00000439134.1:n.-91-8G>A
ENST00000540353.1:n.2978G>A
ENST00000625889.2:c.589G>A	ENSP00000486846.1:p.Gly197Ser
ENST00000629016.2:c.*192G>A	ENSP00000486804.1:n.*192G>A
NM_000431.3:c.745G>A	NP_000422.1:p.Gly249Ser
NM_001114185.2:c.745G>A	NP_001107657.1:p.Gly249Ser
NM_001301182.1:c.589G>A	NP_001288111.1:p.Gly197Ser
XM_011538372.1:c.745G>A	XP_011536674.1:p.Gly249Ser
XM_017019313.2:c.589G>A	XP_016874802.1:p.Gly197Ser
XM_017019314.1:c.745G>A	XP_016874803.1:p.Gly249Ser
XM_024448982.1:c.745G>A	XP_024304750.1:p.Gly249Ser
NM_000431.4:c.745G>A MANE Select	NP_000422.1:p.Gly249Ser
NM_001114185.3:c.745G>A	NP_001107657.1:p.Gly249Ser
NM_001301182.2:c.589G>A	NP_001288111.1:p.Gly197Ser