Canonical Allele Identifier: CA6779450

Gene: MVK

Linked Data

• ClinVar Variation Id: 2636047
• ClinVar RCV Id: RCV004534357
• dbSNP Id: rs770598765
• ExAC: 12:110034240 A / C
• gnomAD v2: 12-110034240-A-C
• gnomAD v3: 12-109596435-A-C
• gnomAD v4: 12-109596435-A-C
• MyVariant Identifiers: chr12:g.110034240A>C (hg19) ; chr12:g.109596435A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596435A>C , CM000674.2:g.109596435A>C	GRCh38
NC_000012.11:g.110034240A>C , CM000674.1:g.110034240A>C	GRCh37
NC_000012.10:g.108518623A>C	NCBI36
NG_007702.1:g.27741A>C , LRG_156:g.27741A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.206A>C	ENSP00000439134.1:p.Gln69Pro
ENST00000546277.6:c.1049A>C	ENSP00000438153.2:p.Gln350Pro
ENST00000636529.2:n.688A>C
ENST00000697195.1:c.*813A>C	ENSP00000513181.1:n.*813A>C
ENST00000697196.1:c.*222A>C	ENSP00000513182.1:n.*222A>C
ENST00000697197.1:n.3078A>C
ENST00000697198.1:n.1433A>C
ENST00000228510.8:c.1049A>C MANE Select	ENSP00000228510.3:p.Gln350Pro
ENST00000636529.1:c.674A>C
ENST00000636996.1:c.897A>C
ENST00000228510.7:c.1049A>C	ENSP00000228510.3:p.Gln350Pro
ENST00000392727.7:c.893A>C	ENSP00000376487.3:p.Gln298Pro
ENST00000447878.6:c.*496A>C	ENSP00000415555.2:n.*496A>C
ENST00000537237.5:c.*722A>C	ENSP00000445382.1:n.*722A>C
ENST00000539575.4:c.1049A>C	ENSP00000443551.2:p.Gln350Pro
ENST00000539696.5:c.206A>C	ENSP00000439134.1:p.Gln69Pro
ENST00000540353.1:n.3282A>C
ENST00000625889.2:c.893A>C	ENSP00000486846.1:p.Gln298Pro
ENST00000629016.2:c.*496A>C	ENSP00000486804.1:n.*496A>C
NM_000431.3:c.1049A>C	NP_000422.1:p.Gln350Pro
NM_001114185.2:c.1049A>C	NP_001107657.1:p.Gln350Pro
NM_001301182.1:c.893A>C	NP_001288111.1:p.Gln298Pro
XM_011538372.1:c.1049A>C	XP_011536674.1:p.Gln350Pro
XM_017019313.2:c.893A>C	XP_016874802.1:p.Gln298Pro
XM_017019314.1:c.1049A>C	XP_016874803.1:p.Gln350Pro
NM_000431.4:c.1049A>C MANE Select	NP_000422.1:p.Gln350Pro
NM_001114185.3:c.1049A>C	NP_001107657.1:p.Gln350Pro
NM_001301182.2:c.893A>C	NP_001288111.1:p.Gln298Pro