Canonical Allele Identifier: CA121774

Gene: MVK

Linked Data

• ClinVar Variation Id: 11928
• ClinVar RCV Id: RCV000012704
• dbSNP Id: rs121917789
• gnomAD v4: 12-109595044-A-C
• MyVariant Identifiers: chr12:g.110032849A>C (hg19) ; chr12:g.109595044A>C (hg38)
• PubMed: PMID:1377680

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595044A>C , CM000674.2:g.109595044A>C	GRCh38
NC_000012.11:g.110032849A>C , CM000674.1:g.110032849A>C	GRCh37
NC_000012.10:g.108517232A>C	NCBI36
NG_007702.1:g.26350A>C , LRG_156:g.26350A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.59A>C	ENSP00000439134.1:p.Asn20Thr
ENST00000546277.6:c.902A>C	ENSP00000438153.2:p.Asn301Thr
ENST00000636529.2:n.541A>C
ENST00000697195.1:c.*666A>C	ENSP00000513181.1:n.*666A>C
ENST00000697196.1:c.*75A>C	ENSP00000513182.1:n.*75A>C
ENST00000697197.1:n.2931A>C
ENST00000697198.1:n.1286A>C
ENST00000228510.8:c.902A>C MANE Select	ENSP00000228510.3:p.Asn301Thr
ENST00000636529.1:c.527A>C
ENST00000636996.1:c.750A>C
ENST00000228510.7:c.902A>C	ENSP00000228510.3:p.Asn301Thr
ENST00000392727.7:c.746A>C	ENSP00000376487.3:p.Asn249Thr
ENST00000447878.6:c.*349A>C	ENSP00000415555.2:n.*349A>C
ENST00000537237.5:c.*575A>C	ENSP00000445382.1:n.*575A>C
ENST00000539575.4:c.902A>C	ENSP00000443551.2:p.Asn301Thr
ENST00000539696.5:c.59A>C	ENSP00000439134.1:p.Asn20Thr
ENST00000540353.1:n.3135A>C
ENST00000625889.2:c.746A>C	ENSP00000486846.1:p.Asn249Thr
ENST00000629016.2:c.*349A>C	ENSP00000486804.1:n.*349A>C
NM_000431.3:c.902A>C	NP_000422.1:p.Asn301Thr
NM_001114185.2:c.902A>C	NP_001107657.1:p.Asn301Thr
NM_001301182.1:c.746A>C	NP_001288111.1:p.Asn249Thr
XM_011538372.1:c.902A>C	XP_011536674.1:p.Asn301Thr
XM_017019313.2:c.746A>C	XP_016874802.1:p.Asn249Thr
XM_017019314.1:c.902A>C	XP_016874803.1:p.Asn301Thr
NM_000431.4:c.902A>C MANE Select	NP_000422.1:p.Asn301Thr
NM_001114185.3:c.902A>C	NP_001107657.1:p.Asn301Thr
NM_001301182.2:c.746A>C	NP_001288111.1:p.Asn249Thr