Canonical Allele Identifier: CA149935

Gene: MVK

Linked Data

• ClinVar Variation Id: 97640
• ClinVar RCV Id: RCV000083893 ; RCV003764777
• dbSNP Id: rs104895350
• gnomAD v4: 12-109595128-G-A
• MyVariant Identifiers: chr12:g.110032933G>A (hg19) ; chr12:g.109595128G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595128G>A , CM000674.2:g.109595128G>A	GRCh38
NC_000012.11:g.110032933G>A , CM000674.1:g.110032933G>A	GRCh37
NC_000012.10:g.108517316G>A	NCBI36
NG_007702.1:g.26434G>A , LRG_156:g.26434G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.143G>A	ENSP00000439134.1:p.Ser48Asn
ENST00000546277.6:c.986G>A	ENSP00000438153.2:p.Ser329Asn
ENST00000636529.2:n.625G>A
ENST00000697195.1:c.*750G>A	ENSP00000513181.1:n.*750G>A
ENST00000697196.1:c.*159G>A	ENSP00000513182.1:n.*159G>A
ENST00000697197.1:n.3015G>A
ENST00000697198.1:n.1370G>A
ENST00000228510.8:c.986G>A MANE Select	ENSP00000228510.3:p.Ser329Asn
ENST00000636529.1:c.611G>A
ENST00000636996.1:c.834G>A
ENST00000228510.7:c.986G>A	ENSP00000228510.3:p.Ser329Asn
ENST00000392727.7:c.830G>A	ENSP00000376487.3:p.Ser277Asn
ENST00000447878.6:c.*433G>A	ENSP00000415555.2:n.*433G>A
ENST00000537237.5:c.*659G>A	ENSP00000445382.1:n.*659G>A
ENST00000539575.4:c.986G>A	ENSP00000443551.2:p.Ser329Asn
ENST00000539696.5:c.143G>A	ENSP00000439134.1:p.Ser48Asn
ENST00000540353.1:n.3219G>A
ENST00000625889.2:c.830G>A	ENSP00000486846.1:p.Ser277Asn
ENST00000629016.2:c.*433G>A	ENSP00000486804.1:n.*433G>A
NM_000431.3:c.986G>A	NP_000422.1:p.Ser329Asn
NM_001114185.2:c.986G>A	NP_001107657.1:p.Ser329Asn
NM_001301182.1:c.830G>A	NP_001288111.1:p.Ser277Asn
XM_011538372.1:c.986G>A	XP_011536674.1:p.Ser329Asn
XM_017019313.2:c.830G>A	XP_016874802.1:p.Ser277Asn
XM_017019314.1:c.986G>A	XP_016874803.1:p.Ser329Asn
NM_000431.4:c.986G>A MANE Select	NP_000422.1:p.Ser329Asn
NM_001114185.3:c.986G>A	NP_001107657.1:p.Ser329Asn
NM_001301182.2:c.830G>A	NP_001288111.1:p.Ser277Asn