Canonical Allele Identifier: CA386649245

Gene: MVK

Linked Data

• dbSNP Id: rs373753405
• gnomAD v4: 12-109591253-G-C
• MyVariant Identifiers: chr12:g.110029058G>C (hg19) ; chr12:g.109591253G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591253G>C , CM000674.2:g.109591253G>C	GRCh38
NC_000012.11:g.110029058G>C , CM000674.1:g.110029058G>C	GRCh37
NC_000012.10:g.108513441G>C	NCBI36
NG_007702.1:g.22559G>C , LRG_156:g.22559G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.-63G>C	ENSP00000439134.1:n.-63G>C
ENST00000546277.6:c.781G>C	ENSP00000438153.2:p.Val261Leu
ENST00000636529.2:n.420G>C
ENST00000697195.1:c.*545G>C	ENSP00000513181.1:n.*545G>C
ENST00000697196.1:c.869G>C	ENSP00000513182.1:p.Arg290Pro
ENST00000697197.1:n.2810G>C
ENST00000228510.8:c.781G>C MANE Select	ENSP00000228510.3:p.Val261Leu
ENST00000636529.1:c.406G>C
ENST00000636996.1:c.629G>C
ENST00000228510.7:c.781G>C	ENSP00000228510.3:p.Val261Leu
ENST00000392727.7:c.625G>C	ENSP00000376487.3:p.Val209Leu
ENST00000447878.6:c.*228G>C	ENSP00000415555.2:n.*228G>C
ENST00000537237.5:c.*454G>C	ENSP00000445382.1:n.*454G>C
ENST00000539575.4:c.781G>C	ENSP00000443551.2:p.Val261Leu
ENST00000539696.5:c.-63G>C	ENSP00000439134.1:n.-63G>C
ENST00000540353.1:n.3014G>C
ENST00000625889.2:c.625G>C	ENSP00000486846.1:p.Val209Leu
ENST00000629016.2:c.*228G>C	ENSP00000486804.1:n.*228G>C
NM_000431.3:c.781G>C	NP_000422.1:p.Val261Leu
NM_001114185.2:c.781G>C	NP_001107657.1:p.Val261Leu
NM_001301182.1:c.625G>C	NP_001288111.1:p.Val209Leu
XM_011538372.1:c.781G>C	XP_011536674.1:p.Val261Leu
XM_017019313.2:c.625G>C	XP_016874802.1:p.Val209Leu
XM_017019314.1:c.781G>C	XP_016874803.1:p.Val261Leu
XM_024448982.1:c.781G>C	XP_024304750.1:p.Val261Leu
NM_000431.4:c.781G>C MANE Select	NP_000422.1:p.Val261Leu
NM_001114185.3:c.781G>C	NP_001107657.1:p.Val261Leu
NM_001301182.2:c.625G>C	NP_001288111.1:p.Val209Leu